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Resume L’arthrite septique (AS) sur articulation native de l’adulte est une affection rare mais qui constitue une urgence diagnostique en raison de la morbi-mortalite et du risque fonctionnel secondaire aux dommages structuraux. Sa prise en charge actuelle est heterogene et les recommandations disponibles sont anciennes. Le groupe de travail sur les infections osteo-articulaires de la Societe francaise de rhumatologie (SFR) en cooperation avec la Societe francaise de pathologies infectieuses de langue francaise (SPILF) et la Societe francaise de chirurgie orthopedique et traumatologique (SOFCOT) a travaille selon la methodologie HAS afin d’elaborer des recommandations de pratique clinique pour la prise en charge diagnostique et therapeutique des AS sur articulation native de l’adulte. Parmi les nouveautes, l’accent est mis sur l’importance de la documentation microbiologique (hemocultures et ponction articulaire) avant de debuter le traitement antibiotique, la recherche de diagnostics differentiels (recherche de microcristaux), la place de l’echographie articulaire pour guider une ponction, et l’indication a realiser une radiographie de reference. L’echographie cardiaque est indiquee seulement en cas d’AS a Staphylococcus aureus, streptocoques d’origine buccodentaire, Streptococcus gallolyticus, ou Enterococcus faecalis, ou de suspicion clinique d’endocardite infectieuse. Au plan therapeutique, nous insistons sur l’importance d’une collaboration medico-chirurgicale. L’antibiotherapie (molecules et durees) est presentee sous forme de tableaux didactiques en fonction des principaux germes en cause (staphylocoques, streptocoques et bacilles a Gram negatifs). L’antibiotherapie probabiliste est reservee aux patients presentant des signes de gravite. Enfin, les traitements non medicamenteux tels que le drainage de l’articulation et la reeducation precoce font l’objet de recommandations specifiques.

Septic arthritis (SA) in an adult native joint is a rare condition but a diagnostic emergency due to the morbidity and mortality and the functional risk related to structural damage. Current management varies and the recommendations available are dated. The French Rheumatology Society (SFR) Bone and Joint Infection Working Group, together with the French Language Infectious Diseases Society (SPILF) and the French Orthopaedic and Trauma Surgery Society (SOFCOT) have worked according to the HAS methodology to devise clinical practice recommendations to diagnose and treat SA in an adult native joint. One new focus is on the importance of microbiological documentation (blood cultures and joint aspiration) before starting antibiotic treatment, looking for differential diagnoses (microcrystal detection), the relevance of a joint ultrasound to guide aspiration, and the indication to perform a reference X-ray. A cardiac ultrasound is indicated only in cases of SA involving Staphylococcus aureus, oral streptococci, Streptococcus gallolyticus or Enterococcus faecalis, or when infective endocarditis is clinically suspected. Regarding treatment, we stress the importance of medical and surgical collaboration. Antibiotic therapies (drugs and durations) are presented in the form of didactic tables according to the main bacteria in question (staphylococci, streptococci and gram-negative rods). Probabilistic antibiotic therapy should only be used for patients with serious symptoms. Lastly, non-drug treatments such as joint drainage and early physical therapy are the subject of specific recommendations.

ObjectivesTo describe current management and outcome of native joint septic arthritis (NJSA) in French rheumatology departments.MethodsFor this retrospective, nationwide multicentric study, 127 French rheumatology departments were contacted to report up to 12 cases of NJSA that occurred between 1 January 2016 and 31 December 2017. Characteristics, diagnosis procedures, therapeutic management and outcome were recorded.ResultsOverall, 362 patients were included (mean age 64.0±18.6 years, median Charlson comorbidity index 3.5 (0–14)). Knee was the most frequent site (n=160 (38.9%)), andStaphylococcussp (n=185 (51.4%)), the most frequent pathogen. All patients received antibiotics for a mean duration of 46.8 (±22.0) days, including intravenous route for a mean of 17.2 (±15.4) days. Management was heterogeneous. Surgical procedure was performed in 171 (48.3%), joint immobilisation in 128 (43.8%). During follow-up, 91 (28.3%) patients have had serious complications and 28 (9.2%) of them died. Factors associated with 1-year mortality were age (OR 1.08, 95% CI 1.04 to 1.13; pStaphylococcus aureusNJSA compared withStreptococcussp. NJSA (OR 7.24, 95% CI 1.26 to 41.68, p=0.027). The complete recovery with no adverse joint outcome at 1 year was observed in n=125/278 patients (55.0%).ConclusionPrognosis of NJSA remained severe with a high rate of morbimortality. Its management was very heterogeneous. This study highlights the importance of the new French recommendations, published after the completion of the study, in order to facilitate NJSA management.

Resume Objectif L’infection de prothese articulaire est une complication grave de l’arthroplastie. Elle necessite un traitement medico-chirurgical lourd source de complications plus frequentes perioperatoires chez le sujet âge. L’allongement de l’esperance de vie associee a une amelioration des procedures permet de proposer ces traitements meme a des patients tres âges. L’objectif de cette etude est de comparer les caracteristiques et l’evolution apres traitement a visee curative des infections de protheses articulaires selon l’âge des patients. Methodes Parmi 765 patients hospitalises pour une infection de protheses articulaires, 2 groupes etaient compares selon l’âge : ≥ 80 ans (n = 124) et Resultats Les deux groupes etaient comparables sur les antecedents et les comorbidites sauf pour le score ASA (American Society of Anesthesiologists) ≥ 3 significativement plus frequents chez les ≥ 80 ans. Il y avait plus d’infection a streptocoques (20 % vs 13 %, p Conclusion Les patients de 80 ans et plus semblent eligibles a un traitement medico-chirurgical curateur au meme titre que les plus jeunes a condition d’apprecier en preoperatoire, au cas par cas, les benefices/risques d’une chirurgie curative lourde.

Prosthetic joint infection (PJI) is a serious complication of joint replacement surgery. The major pharmacological and surgical treatments required by PJI increase the risk of peri-operative complications in elderly patients. The increase in life expectancy combined with procedural advances make these treatments possible even in the oldest patients. Here, our objective was to compare the characteristics and outcomes of curative PJI treatment in patients 80 years vs. ≥ 80 years.A prospective single-center design was used to compare the characteristics and outcomes of curative treatment for hip or knee PJI in patients 80 years and ≥ 80 years admitted in 2004-2014.Of 765 patients admitted for PJI, 590 were 80 years and 124 were ≥ 80 years. Medical history and comorbidities were similar in the two groups. The older group had a significantly higher proportion of patients with American Society of Anesthesiologists Scores ≥ 3 and with streptococcal infection (20% vs. 13%, P 0.05). After complete surgical excision and prolonged antibiotic therapy, the only event whose frequency differed significantly between the two groups was PJI-related death, which was more common in the older patients (6.5% vs. 0.8%, P 0.05). The 2-year survival rate after one-stage exchange arthroplasty was 90% in the ≥80 year group.Patients aged 80 years or older are eligible for the same curative pharmacological and surgical PJI treatments used in their younger counterparts. Before surgery, the risk/benefit ratio of the major surgical procedure required to treat PJI must be assessed on a case-by-case basis.

Resume Objectif L’infection tuberculeuse de prothese articulaire est une localisation rare et son diagnostic souvent retarde. L’objectif est de decrire sa prise en charge dans un centre de reference des infections osteo-articulaires. Methodes Etude retrospective monocentrique ayant inclus 9 patients entre 1987 a 2016 Resultats L’âge median etait de 80 ans. Deux patients avaient un antecedent de tuberculose. La hanche etait atteinte dans tous les cas. Quatre patients avaient une autre atteinte : pulmonaire (n = 3), urinaire et scrotale (n = 1), vertebrale (n = 1). Le diagnostic a ete porte sur les prelevements peroperatoires systematiques lors de la pose de la prothese ou a distance de la pose. Pour les 8 patients suivis sous traitement, la duree moyenne de l’antibiotherapie a ete de 16 mois (12–18). Pour les 4 decouvertes lors de la pose de prothese, il n’y a pas eu de reprise chirurgicale pour l’infection. Pour les 5 autres patients, un changement de la prothese a ete realise dans 3 cas, une resection de hanche dans un cas et un patient n’a pas ete opere. L’evolution a ete favorable dans tous les cas apres un suivi allant de 15 mois a 10 ans. Conclusion L’infection tuberculeuse de prothese articulaire est rare. Le pronostic est bon si le traitement antibiotique est prolonge d’une duree qui reste a determiner. La strategie chirurgicale doit se discuter au cas par cas et le materiel prothetique peut etre conserve lorsque l’infection tuberculeuse est de decouverte fortuite a la pose de la prothese.

Objectives Adult-onset Still’s disease (AOSD) is a rare systemic inflammatory disorder. Diagnosing AOSD can be challenging, as disease presentation and clinical course are highly heterogeneous. For unclear reasons, a few patients develop life-threatening complications. Our objective was to determine whether these cases resulted from therapeutic delay or could represent a peculiar AOSD subset. Methods We conducted a multicentre retrospective study of 20 AOSD patients with organ failure requiring intensive care unit admission and 41 control AOSD patients without organ failure. Clinico-biological data at hospital admission were explored using supervised analyses and unsupervised dimension reduction analysis (factor analysis of mixed data, FAMD). Results Disease duration before admission was shorter in patients with life-threatening AOSD (median, 10 vs 20 days, p = 0.007). Disease duration before AOSD therapy initiation also tended to be shorter (median, 24 vs 32 days, p = 0.068). Despite this shorter disease duration, FAMD, hierarchical clustering and univariate analyses showed that these patients exhibited distinctive characteristics at first presentation, including younger age; higher frequency of splenomegaly, liver, cardiac and/or lung involvement; less frequent arthralgia; and higher ferritin level. In multivariate analysis, 3 parameters predicted life-threatening complications: lack of arthralgia, younger age and shorter time between fever onset and hospitalisation. Conclusion This study suggests that life-threatening complications of AOSD occur very early, in a peculiar subset, which we propose to name catastrophic adult-onset Still’s disease (CAOSD). Its exact burden may be underestimated and remains to be clarified through large multicentre cohorts. Further studies are needed to identify red flags and define the optimal therapeutic strategy.

International audience; L’arthrite septique (AS) sur articulation native de l’adulte est une affection rare mais qui constitue une urgence diagnostique en raison de la morbi-mortalité et du risque fonctionnel secondaire aux dommages structuraux. Sa prise en charge actuelle est hétérogène et les recommandations disponibles sont anciennes. Le groupe de travail sur les infections ostéo-articulaires de la Société française de rhumatologie (SFR) en coopération avec la Société française de pathologies infectieuses de langue française (SPILF) et la Société française de chirurgie orthopédique et traumatologique (SOFCOT) a travaillé selon la méthodologie HAS afin d’élaborer des recommandations de pratique clinique pour la prise en charge diagnostique et thérapeutique des AS sur articulation native de l’adulte. Parmi les nouveautés, l’accent est mis sur l’importance de la documentation microbiologique (hémocultures et ponction articulaire) avant de débuter le traitement antibiotique, la recherche de diagnostics différentiels (recherche de microcristaux), la place de l’échographie articulaire pour guider une ponction, et l’indication à réaliser une radiographie de référence. L’échographie cardiaque est indiquée seulement en cas d’AS à Staphylococcus aureus, streptocoques d’origine buccodentaire, Streptococcus gallolyticus, ou Enterococcus faecalis, ou de suspicion clinique d’endocardite infectieuse. Au plan thérapeutique, nous insistons sur l’importance d’une collaboration médico-chirurgicale. L’antibiothérapie (molécules et durées) est présentée sous forme de tableaux didactiques en fonction des principaux germes en cause (staphylocoques, streptocoques et bacilles à Gram négatifs). L’antibiothérapie probabiliste est réservée aux patients présentant des signes de gravité. Enfin, les traitements non médicamenteux tels que le drainage de l’articulation et la rééducation précoce font l’objet de recommandations spécifiques.

We describe the case of an HIV-infected man who developed twice a Helicobacter cinaedi prosthetic joint infection. In our knowledge, it is the first case to date. Furthermore, it illustrates the fact that this bacterium is difficult to isolate and that recurrences can occur even after apparently successful treatment.

Background Adult-onset Still disease (AOSD) is a rare systemic inflammatory disorder. A few patients develop organ complications that can be life-threatening. Our objectives were to describe the disease course and phenotype of life-threatening AOSD, including response to therapy and long-term outcome. Methods A multicenter case series of intensive care medicine (ICU) patients with life-threatening AOSD and a systematic literature review. Results Twenty patients were included. ICU admission mostly occurred at disease onset (90%). Disease manifestations included fever (100%), sore throat (65%), skin rash (65%), and arthromyalgia (55%). Serum ferritin was markedly high (median: 29,110 ng/mL). Acute respiratory failure, shock and multiple organ failure occurred in 15 (75%), 10 (50%), and 7 (35%) cases, respectively. Hemophagocytosis was demonstrated in eight cases. Two patients died. Treatment delay was significant. All patients received corticosteroids. Response rate was 50%. As second-line, intravenous immunoglobulins were ineffective. Anakinra was highly effective. After ICU discharge, most patients required additional treatment. Literature analysis included 79 cases of AOSD with organ manifestations, which mainly included reactive hemophagocytic syndrome (42%), acute respiratory failure (34%), and cardiac complications (23%). Response rate to corticosteroids was 68%. Response rates to IVIgs, cyclosporin, and anakinra were 50%, 80%, and 100%, respectively. Conclusions AOSD should be recognized as a rare cause of sepsis mimic in patients with fever of unknown origin admitted to the ICU. The diagnosis relies on a few simple clinical clues. Early intensive treatment may be discussed. IVIgs should be abandoned. Long-term prognosis is favorable. Electronic supplementary material The online version of this article (10.1186/s13054-018-2012-2) contains supplementary material, which is available to authorized users.

Background Pulmonary arterial hypertension (PAH) is a rare complication of systemic lupus erythematosus (SLE). Methods We identified all patients with SLE and PAH (SLE-PAH) who were enrolled in the French Pulmonary Hypertension Registry with a diagnosis confirmed by right heart catheterization (RHC). A control group of 101 patients with SLE without known PAH was selected from SLE expert centers participating in the Pulmonary Hypertension Registry. Survival was estimated by the Kaplan-Meier method. Hazard ratios associated with potential predictors of death were estimated using Cox proportional hazard models. Results Of the 69 patients with SLE-PAH identified in the French Pulmonary Hypertension Registry, 51 were included in the study. They did not differ from the control group regarding age, sex, or duration of SLE at the time of the analysis but had a higher frequency of anti-SSA and anti-SSB antibodies. The delay between SLE diagnosis and PAH diagnosis was 4.9 years (range, 2.8-12.9) years. The 3- and 5-year overall survival rates were 89.4% (95% CI, 76.2%-96.5%) and 83.9% (95% CI, 68.8%-92.1%), respectively. The survival rate was significantly better in patients with anti-U1-RNP antibodies ( P = .04). Conclusions Patients with SLE-PAH have an overall 5-year survival rate of 83.9% after the PAH diagnosis. Anti-SSA/SSB antibodies may be a risk factor for PAH, and the presence of anti-U1-RNP antibodies appears to be a protective factor regarding survival.

Resume Introduction L’osteomalacie est une osteopathie fragilisante responsable de douleurs chroniques et de fracture dont le diagnostic et le traitement sont indispensables. En l’absence de reponse a une supplementation en vitamine D et devant l’existence d’une fuite renale de phosphore, il faut savoir evoquer le diagnostic de diabete phosphate oncogenique qui peut etre secondaire a la production de FGF-23 par une tumeur mesenchymateuse phosphaturique qui doit etre localisee rapidement et resequee pour permettre la disparition de l’osteomalacie. Observation Une patiente de 70 ans etait hospitalisee pour l’exploration de multiples fractures en lien avec une osteomalacie ne repondant pas a une supplementation en vitamine D. On notait une hypophosphoremie profonde persistante. Il etait finalement mis en evidence un diabete phosphate avec un taux de reabsorption renal du phosphore effondre, sans argument pour un syndrome de Fanconi. L’origine oncogenique de cette perte de phosphore etait confirmee par un dosage de FGF-23 eleve, faisant suspecter l’existence d’une tumeur mesenchymateuse phosphaturique secretant du FGF-23, responsable de la perte renale de phosphore et de l’osteomalacie. Il aura fallu trois ans et la repetition a trois reprises d’une scintigraphie a l’octreotide marquee a l’indium et d’un TEP-scanner pour finalement localiser la tumeur au niveau de la premiere phalange du troisieme orteil du pied droit, dont l’exerese chirurgicale a permis la guerison complete de la patiente avec deux ans de recul. Conclusion En presence d’un bilan phosphocalcique evocateur de diabete phosphate oncogenique et d’un dosage de FGF-23 eleve, il faut savoir repeter les examens pour localiser la tumeur responsable car sa visualisation sur ces examens peut etre retardee par rapport au diagnostic.

Resume Introduction Le deficit en sphingomyelinase acide est une maladie de surcharge lysosomale autosomique recessive allant d’une forme neuro-viscerale severe de l’enfant, la maladie de Niemann-Pick A, a une forme chronique viscerale evoluant jusqu’a l’âge adulte, la maladie de Niemann-Pick B (NP-B). Methodes Etude retrospective multicentrique francaise de patients adultes suivis entre 1985 et mars 2015 pour une maladie de NP-B. Recueil des donnees cliniques et paracliniques a partir des dossiers medicaux. Resultats Vingt-huit patients (19 hommes, 9 femmes) ont ete analyses. Seize patients ont ete diagnostiques avant l’âge de 10 ans. Les principaux symptomes au diagnostic etaient l’hepatosplenomegalie et l’atteinte pulmonaire interstitielle. Une thrombopenie etait notee dans 24 des 28 cas (plaquettes Conclusion La maladie de NP-B associe une hepatosplenomegalie et une atteinte pulmonaire interstitielle. Un diagnostic precoce permet de reduire les complications et d’eviter les procedures inappropriees (par exemple splenectomie). A l’heure actuelle, la prise en charge repose principalement sur un traitement symptomatique, mais un essai de phase 2/3 de traitement enzymatique substitutif est en cours.

Resume La maladie de Rendu-Osler(-Weber), ou telangiectasie hemorragique hereditaire, est une maladie genetique entrainant une deregulation de l’angiogenese et conduisant a la formation de telangiectasies cutaneo-muqueuses et de shunts intravisceraux. La telangiectasie hemorragique hereditaire peut engager le pronostic vital par l’intermediaire d’une insuffisance cardiaque a debit eleve en presence de multiples shunts intrahepatiques. La telangiectasie hemorragique hereditaire expose egalement au risque d’infections, notamment intracerebrales en presence de malformations arterio-veineuses pulmonaires. La survenue d’infections osteoarticulaires a ete plus rarement decrite au cours de la telangiectasie hemorragique hereditaire. Nous rapportons le cas d’une patiente de 77 ans ayant presente des infections osteoarticulaires recidivantes a Staphylococcus aureus sensible a la methicilline dans un contexte de telangiectasie hemorragique hereditaire avec atteinte multiviscerale severe ayant necessite un traitement par bevacizumab. L’association entre telangiectasie hemorragique hereditaire et infections osteoarticulaires, et les hypotheses physiopathogeniques emises sont discutees. Des mesures preventives (decolonisation des gites staphylococciques, antibioprophylaxie) peuvent etre proposees chez les patients a risque d’infections recurrentes. Le traitement par bevacizumab a revolutionne la prise en charge des formes severes, mais son role preventif dans la survenue des infections reste a determiner. La reconnaissance de la telangiectasie hemorragique hereditaire, aux criteres diagnostiques simples et etablis, est donc importante pour le rhumatologue.

Objective.Spondyloarthritis (SpA) and Takayasu arteritis (TA) are 2 chronic inflammatory diseases; their coexistence in a single patient is uncommon. The aims of our study were to describe clinical features of patients having SpA associated with TA and to identify some characteristics of the types of patients with SpA associated with TA. We also analyzed treatments used in this context.Methods.This French multicenter retrospective survey called for observations on behalf of the Club Rhumatismes et Inflammations, with a standardized questionnaire established by the investigators.Results.We included 14 patients (women: 10/14; median age at SpA diagnosis: 43.5 yrs, ranging from 19 to 63). Subtypes of SpA were ankylosing spondylitis (n = 11), psoriatic arthritis (n = 2), and synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome (n = 1). HLA-B27 was positive in 3 cases, negative in 9, and unknown in 2. SpA was diagnosed before TA in 13 cases. Imaging findings compatible with the diagnosis of TA were found with computed tomography (11/14) and/or Doppler ultrasound (10/14). Laboratory tests showed increased acute-phase reactants in all cases (C-reactive protein ≥ 25 mg/l in 71% of the cases). All patients except 1 received corticosteroids and 7 were treated with anti–tumor necrosis factor (anti-TNF).Conclusion.Association of SpA and TA is rare but probably not coincidental. Peripheral pulse palpation and vascular auscultation should be systematic and are the first indicators of TA in patients with SpA. Moreover, increased acute-phase reactants during SpA followup should lead to search for TA. Finally, there are therapeutic implications because anti-TNF are efficient in SpA and might be efficient in TA.

Resume Introduction La maladie de Fabry est une maladie lysosomale liee a un deficit en alpha-galactosidase A entrainant des atteintes renales et cardiaques severes. Il existe peu de donnees sur la transplantation combinee cœur–rein dans ce contexte. Observations Deux freres diagnostiques apres 30 ans etaient transplantes du cœur et du rein a respectivement 49 et 42 ans en raison d’une insuffisance renale terminale et d’une cardiomyopathie hypertrophique d’evolution rapide. Ces deux patients sont encore en vie respectivement 4 et 9 ans apres greffe combinee. Il n’a pas ete mis en evidence de recidive de la maladie de Fabry sur les greffons. Conclusion La transplantation combinee cœur–rein dans la maladie de Fabry permet de traiter les atteintes de ces deux organes et peut avoir un bon pronostic chez des patients rigoureusement selectionnes. Un diagnostic precoce est necessaire afin d’eviter cette intervention dont la morbi-mortalite perioperatoire reste lourde.

We report the case of a 30-year-old woman with histologically proven monostotic fibrous dysplasia of C2 revealed by a pathological fracture of the odontoid process. Radiological investigations showed a ground-glass mineralization of the vertebral body, a centimetric lytic area with poorly defined margins involving the inferior part of the vertebral body and inferior endplate and a fracture through an osteolytic area in the base of the odontoid process. Owing to the vertebral instability, a surgical procedure combining C0–C5 fixation and posterior bone grafting was performed. The surgical biopsy was inconclusive and pathological confirmation was finally obtained through a percutaneous needle biopsy under fluoroscopic guidance. At 26-month follow-up, the patient still experienced mild persistent cervical posterior neck pain and stiffness possibly related to a C5–6 laxity below the intervertebral fixation. This case combines three radiological findings, which are unusual in fibrous dysplasia: monostotic presentation involving the spine, some aggressive radiographic features, and a pathological fracture.

Objectives To describe the occurrence in prosthetic joints of crystal-induced arthritis (CIA) defined as the deposition within the synovial membrane and/or joint cavity of calcium pyrophosphate dehydrate (CPPD) (chondrocalcinosis), sodium urate (gout), or hydroxyapatite. Methods We retrospectively reviewed the 7 cases of prosthetic-joint CIA seen between 1993 and 2013 at a medical-surgical center specialized in the management of osteoarticular infections. Results The 4 females and 3 males ranged in age from 67 to 79 years. Acute CIA occurred at the knee in 6 patients (5 with total knee arthroplasty and 1 with unicompartmental knee arthroplasty) and at the hip in 1 patient (with total hip arthroplasty). Time from arthroplasty to CIA varied from 7 days to 9 years. An abrupt onset was a consistent feature, with pain, complete loss of function, and local evidence of inflammation. A single patient had a fever and 6 patients had laboratory evidence of systemic inflammation. Joint aspiration showed hemarthrosis in 3 patients and inflammatory joint fluid with 20,000 to 79,000 neutrophils/mm3 in 6 patients. Joint fluid cultures were negative in 6 patients. CPPD crystals were evidenced in 5 patients, including 1 who also had hydroxyapatite crystals detected by electron microscopy after alizarin red staining. Monosodium urate crystals were found in 1 patient. The remaining patient had both CPPD crystals and positive cultures for Campylobacter fetus. In 5 patients, treatment with colchicine or a nonsteroidal antiinflammatory drug ensured prompt control of the symptoms and systemic inflammation. The patient with total hip arthroplasty underwent joint aspiration for hemarthrosis. In 1 patient, an intraarticular injection of triamcinolone hexacetonide improved the symptoms and systemic inflammation. The patient with Campylobacter fetus infection was treated with antibiotics, excision of the abscess, and synovectomy. Conclusion CIA may occur after arthroplasty, within synovial membrane remains or neosynovium developed around the prosthetic joint. CIA is a manifestation of a metabolic disease that persists and can reactivate after surgery. Routine testing for crystals is rarely performed in patients with sterile arthritis of a prosthetic joint, and crystals are difficult to detect in joints with hemarthrosis; consequently, the frequency of prosthetic-joint CIA may be underestimated. Although rare, CIA should be considered routinely when symptoms suggesting septic arthritis develop in a prosthetic joint, in order to avoid unnecessary prolonged antibiotic therapy and, in some cases, surgery. The treatment is usually simple.

Objectives Fabry disease is a rare X-linked metabolic disorder characterized by a deficiency in the enzyme alpha-galactosidase A. Both males and females can be affected. The main presenting symptom is pain in the extremities, whereas at a more advanced stage, the manifestations include hypertrophic cardiomyopathy, cardiac dysrhythmia, proteinuria, chronic kidney dysfunction, stroke, and hearing loss. When not diagnosed and treated, Fabry disease causes early death. No studies specifically designed to describe the musculoskeletal manifestations of Fabry disease are available. Methods We conducted a single-center retrospective study of patients receiving follow-up at a Fabry disease referral center. We described the musculoskeletal manifestations and analyzed the differential diagnoses. Results Our study included 40 patients belonging to 20 families, including 25 females with a mean age of 44.2 years (range, 20–76 years) and 15 males with a mean age of 40.1 years (range, 16–61 years). Mean age at the diagnosis of Fabry disease was 37.2 years (range, 7–71 years) in the females and 26.9 years (range, 9–51 years) in the males. Specific enzyme replacement therapy was given to 10 (40%) females and 12 (80%) males. Musculoskeletal manifestations were as follows: past or present pain in the extremities (13 females and 10 males), combined in some patients with vasomotor disorders in the extremities and telangiectasia; exercise intolerance (12 females and 12 males); osteoporotic fractures (2 brothers aged 45 and 44 years, respectively); osteoporosis (3 females, aged 57, 63, and 75 years, respectively), which contributed to death in the oldest patient; osteopenia (2 females aged 38 and 47 years, respectively; and 1 male aged 43 years); Charcot foot and lymphedema with serious infectious complications (4 males older than 40 years), with avascular osteonecrosis of the lower limbs in 2 cases; toe amputations (3 cases); bilateral lower-limb amputation (1 case); abnormally slender lower limbs (5 females and 8 males); acute gout (3 males with severe chronic kidney failure); and carpal tunnel syndrome (1 female and 1 male, both younger than 40 years). Mistaken diagnoses that were made at an early stage, contributing to delay the identification of Fabry disease, included rheumatic fever (2 females and 2 males), growing pains (2 males), pain with paralysis (1 female), chilblains of the lower limbs (1 female), and erythermalgia (1 female). In adulthood, the following mistaken diagnoses were made: Sjogren's syndrome and/or sicca syndrome (6 females), systemic sclerosis (1 male), dysautonomia (1 female), and familial Mediterranean fever (1 female). Conclusion The diagnosis of Fabry disease is usually delayed, due to confusion with more common disorders. Musculoskeletal manifestations may constitute the presenting symptoms. Past or present pain in the extremities is typical. Osteoporosis may develop early and become severe. Together with the family history, the presence of musculoskeletal manifestations can lead to the correct diagnosis by prompting alpha-galactosidase assays in males and genetic testing in females. Fabry disease is often responsible for musculoskeletal manifestations, of which the most common are pain in the extremities and osteoporosis. These manifestations can be inaugural and lead to diagnostic wanderings. They require specific treatment strategies.

Resume Objectifs Decrire les arthrites microcristallines (AM) dues aux depots synoviaux et/ou intra-articulaires de cristaux : de pyrophosphate de calcium dihydrate (PPCD) (chondrocalcinose), d’urate de sodium (goutte) ou d’hydroxyapatite survenant sur protheses articulaire. Methodes Il s’agit d’une etude retrospective de 7 observations d’AM sur prothese articulaire observees entre 1993 et 2013 dans un centre medicochirurgical specialise dans la prise en charge des infections osteoarticulaires. Resultats Ces arthrites concernent 3 hommes et 4 femmes âges de 67 a 79 ans. La crise d’AM est survenue au genou dans 6 cas (prothese totale dans 5 cas et prothese unicompartimentale dans 1 cas) ; sur une prothese totale de hanche (PTH) dans un cas. Le delai de survenue par rapport a l’arthroplastie est variable, de 7 jours a 9 ans. Le debut est toujours brutal caracterise par une douleur et une impotence fonctionnelle totale associees a de signes inflammatoires locaux. Une fievre a ete observee chez un patient. Un syndrome inflammatoire biologique a ete observe dans 6 cas. La ponction articulaire a revele une hemarthrose (3 cas) ; une arthrite inflammatoire avec polynucleose comprise entre 20 000 et 79 000 polynucleaires/mm3 (6 cas). La culture du liquide articulaire est sterile dans 6 cas. Des cristaux de PPCD sont retrouves dans 5 cas associes chez une malade a des cristaux d’hydroxyapatite reveles par la coloration au rouge d’alizarine en microscopie electronique, des cristaux d’urate de sodium dans un cas. Dans un cas une infection a Campylobacter fetus etait associee a la presence de cristaux de PPCD. La colchicine ou un anti-inflammatoire non steroidien a permis une amelioration rapide des symptomes et du syndrome inflammatoire 5 fois. Une hemarthrose sur PTH a eu une ponction evacuatrice. Une infiltration de corticoide (Hexacetonide de triamcinolone) dans 1 cas a permis une amelioration des symptomes et du syndrome inflammatoire biologique. La patiente presentant l’infection sur prothese a C. fetus a ete traitee par antibiotherapie, excision de l’abces et synovectomie. Conclusion La survenue d’une AM est possible meme apres arthroplastie car il persiste un residu synovial ou il va se constituer une neo-synoviale periprothetique. Les AM sont le temoin d’une maladie metabolique qui persiste et qui peut se reactiver en postoperatoire. Les cristaux sont rarement systematiquement recherches dans un contexte d’arthrite sterile sur prothese et sont difficiles a identifier sur hemarthrose. La frequence de cette affection est peut-etre sous-estimee. Bien que rare, le diagnostic d’AM doit systematiquement etre evoque devant une arthrite « pseudo-septique » sur prothese afin d’eviter une antibiotherapie prolongee et parfois un geste chirurgical inutiles. Le traitement est le plus souvent simple.

Resume Objectifs La maladie de Fabry (MF) ou deficit en alpha-galactosidase A est une maladie metabolique rare de transmission liee a l’X. Elle affecte les hommes (H) mais egalement les femmes (F). Les principales manifestations sont a la phase precoce des douleurs des extremites et, a un stade plus tardif, des atteintes cardiaque (cardiomyopathie hypertrophique et rythmique), renale (proteinurie, insuffisance renale chronique), et neurologique (AVC, surdite). La MF aboutit a un deces precoce en l’absence de diagnostic et de traitement. Les manifestations osteoarticulaires (MOA) de la MF n’ont jamais fait l’objet d’une description specifique. Methodes Analyse retrospective monocentrique de 40 observations de patients avec MF, suivis dans un centre de reference. Description des MOA et analyse du diagnostic differentiel. Resultats Quarante patients (15 H, âge moyen 40,1 ans, 16–61 ; 25 F, âge moyen 44,2 ans, 20–76), issus de 20 familles, ont ete analyses. L’âge moyen au diagnostic de MF etait de 26,9 ans chez l’homme (9–51) et de 37,2 ans chez la femme (7–71). Douze H (80 %) et 10 F (40 %) ont ete traites par enzymotherapie specifique. Les MOA suivantes ont ete observees : douleurs des extremites presentes ou passees (10 H, 13 F) parfois associees a un acrosyndrome et a des telangiectasies ; intolerance a l’effort (12 H, 12 F) ; osteoporose fracturaire chez 2 freres âges de 45 et 44 ans, osteoporose (3 F ; 57, 63, et 75 ans) avec deces en partie imputable a l’osteoporose chez la plus âgee, osteopenie (1 H, 43 ans ; 2 F, 38 et 47 ans) ; pied de Charcot et lymphœdeme avec complications infectieuses graves chez 4 H (âge > 40 ans) associees a des osteonecroses des membres inferieurs dans deux cas, amputations d’orteils (3 cas), amputation des deux membres inferieurs (1 cas) ; membres inferieurs greles (8 H, 5 F) ; crise de goutte (3 H) dans un contexte d’insuffisance renale severe ; syndrome du canal carpien (1 H, 1 F, âges de moins de 40 ans). Les diagnostics alternatifs, en partie source d’un retard diagnostique, furent a un stade precoce : RAA (2 H, 2 F), douleurs de croissance (2 H), « douleurs avec paralysie » (1 F), engelures des membres inferieurs (1 F), erythermalgie (1 F) ; a l’âge adulte : syndrome de Gougerot-Sjogren et/ou syndrome sec (6 F), sclerodermie systemique (1 H), dysautonomie (1 F), fievre mediterraneenne familiale (1 F). Conclusion La MF est en general diagnostiquee trop tardivement, au profit d’autres diagnostics plus frequents. Les signes d’alerte peuvent etre osteoarticulaires. Les douleurs des extremites presentes ou passees sont caracteristiques de la MF. L’osteoporose peut etre precoce et severe. Couplees a un arbre genealogique, les MOA permettent de poser le diagnostic de MF par dosage biochimique de l’alpha-galactosidase A chez l’homme et analyse genetique chez la femme. Les MOA de la MF sont frequentes, dominees par les douleurs des extremites et une osteoporose. Elles peuvent etre revelatrices de la MF et sources d’erreurs diagnostiques. Elles necessitent une prise en charge ciblee.

Background:Objectives:To describe current management and outcome of septic arthritis on native joint in French rheumatology departments.Methods:Retrospective, nation-wide multicentric study. 127 French rheumatology departments were contacted to report 10 successive cases of septic arthritis on native joint that occurred between the 01/01/16 to 31/12/17 (excluding mycobacteria). Characteristics, diagnosis procedure, therapeutic management and outcome were recorded.Results:52 centers included 363 patients (mean age 64± 18.7 years, mean Charlson comorbidity index 4±3). 28.3% patients had a preexisting arthropathy on affected joint. Monoarthritis was observed in 89.6% patients, knee was the most frequent site (38.9%). The most frequent pathogens wereStaphylococcus sp(50.7%) andStreptococcus sp.(23.3%). Bacteremia was found in 156 (45.1%) patients and endocarditis in only 12 (3.0%). Management was heterogeneous. All patients received antibiotics for a mean duration of 46.7±22 days (including intravenous route: 17.3±15.4 d). An initial monotherapy was administered in 42.3% of patients. Surgical procedure (mostly lavage 70.6%) was performed in 171 (48.3%), joint immobilization in 128 (35.3%) (median duration of 21.7±14.1 days). 94 (29.2%) patients have had serious complications including 29 (9.5%) death. Factors associated with death are reported in the table.Conclusion:This study shows that management of septic arthritis is very heterogenous with a still high rate of morbidity and mortality. We identified age, comorbidities, bacteremia and recent antibiotherapy were associated with mortality. Of note, duration of antibiotics was not. Thus, new guidelines are needed in order to facilitate septic arthritis management.Table:FactorsSurvivor(N=276)Dead(N=29)Univariate analysispAdjusted Odds ratio (95%IC)Multivariate analysispAge65 (16-97)82 (32-98)1,07 (1,03-1,12)< 0.001Charlson’s index1 (0-12)2 (0-9)0,00011,3 (1,05-1,63)0,018Delay before antibiotic initiation8,5 (0-310)5 (0-75)0,04840,99 (0,96-1,02)0,562Corticosteroid in the previous 3 months13,9%33,3%0,01842,56 (0,75-8,74)0,133Bacteriemia42,4%71,4%0,00615,07 (1,4-18,370,013Antibiotics in the previous 3 months26,6%56,6%0,00566,7 (2,04-22,01)0,002Disclosure of Interests:Pauline Richebé: None declared, Sophie Godot: None declared, Guillaume Coiffier: None declared, Pascal GUGGENBUHL: None declared, Denis Mulleman: None declared, Marion Couderc: None declared, Emmanuelle Dernis Speakers bureau: Lilly, Novartis, Valentine Deprez: None declared, Carine Salliot: None declared, Saik Urien: None declared, Rachel Brault: None declared, Adeline Ruyssen-Witrand Grant/research support from: Abbvie, Pfizer, Consultant of: Abbvie, BMS, Lilly, Mylan, Novartis, Pfizer, Sandoz, Sanofi-Genzyme, Emmanuel Hoppe: None declared, Jacques-Eric Gottenberg Grant/research support from: BMS, Pfizer, Consultant of: BMS, Sanofi-Genzyme, UCB, Speakers bureau: Abbvie, Eli Lilly and Co., Roche, Sanofi-Genzyme, UCB, Christian Roux: None declared, Sebastien Ottaviani: None declared, Maxime Breban: None declared, Marie Beaufrere: None declared, Alexia Michaut: None declared, Loic Pauvele: None declared, Christelle Darrieutort: None declared, Daniel Wendling: None declared, Pascal COQUERELLE: None declared, Géraldine Bart: None declared, Elisabeth Gervais: None declared, Vincent Goeb: None declared, Marc Ardizzone: None declared, Edouard Pertuiset: None declared, Sophie Derolez: None declared, Jean Marc Ziza: None declared, René-Marc Flipo Consultant of: Johnson and Johnson, MSD France, Novartis, Sanofi, Speakers bureau: Johnson and Johnson, MSD France, Novartis, Sanofi, Raphaèle Seror Consultant of: BMS UCB Pfizer Roche

La Presse Medicale - In Press.Proof corrected by the author Available online since jeudi 14 mars 2019

We describe the case of an HIV-infected man who developed twice a Helicobacter cinaedi prosthetic joint infection. In our knowledge, it is the first case to date. Furthermore, it illustrates the fact that this bacterium is difficult to isolate and that recurrences can occur even after apparently successful treatment.

Objective Tuberculous prosthetic joint infection (PJI) is uncommon and often diagnosed late. The objective here is to describe the management of tuberculous PJI at an osteoarticular infection referral center. Methods A single-center retrospective study of patients managed between 1987 and 2016 was performed. Results We identified 9 patients with a median age of 80 years. The hip was involved in all 9 patients. A known history of tuberculosis was noted in 2 patients and tuberculosis was present at other sites in 4 patients (lung, n = 3; urinary tract and scrotum, n = 1; and spine, n = 1). The diagnosis was established by routine intra-operative microbiological sampling, during (n = 4) or at a distance from (n = 5) hip arthroplasty. In the 8 patients with available follow-up data, mean antibiotic therapy duration was 16 months (range, 12–18 months). None of the 4 patients in whom the infection was diagnosed during arthroplasty required surgical revision because of the infection. Of the other 5 patients, 3 were managed by exchange arthroplasty and 1 by excision of the hip without subsequent prosthesis implantation; the remaining patient did not undergo revision surgery. The infection was eradicated in all 9 patients, after 15 months to 10 years. Conclusion Tuberculous PJI is uncommon. The prognosis is good with prolonged antibiotic therapy, although the optimal duration remains unclear. The surgical strategy should be discussed on a case-by-case basis. The prosthesis can be retained if the tuberculous infection is an unexpected finding during arthroplasty.

Additional information about the manuscript methods and literature review references are provided. (DOCX 27 kb)

Example of two patients treated by anakinra. (PDF 265 kb)

Treatment of 20 AOSD in the ICU: treatments, timing and outcome. (PDF 510 kb)

Flow chart of life-threatening adult-onset Still disease. (PDF 363 kb)

Comparison of patients according to response to corticosteroids in the ICU. (DOCX 14 kb)

International audience; Objective. We describe myelodysplastic syndrome (MDS)–associated systemic inflammatory and autoimmune diseases (SIADs), their treatments and outcomes and the impact of SIADs on overall survival in a French multicentre retrospective study. Methods. In this study, 123 patients with MDS and SIADs were analysed. Results. Mean age was 70 years (s.d. 13) and the male:female ratio was 2. The SIADs were systemic vasculitis in 39 (32%) cases, CTD in 31 (25%) cases, inflammatory arthritis in 28 (23%) cases, a neutrophilic disorder in 12 (10%) cases and unclassified in 13 cases (11%). The SIADs fulfilled the usual classification criteria in 75 (66%) cases, while complete criteria were not reached in 21 (19%) cases. A significant association was shown between chronic myelomonocytic leukaemia (CMML) and systemic vasculitis (P = 0.0024). One hundred and eighteen (96%) SIAD patients were treated (91% with steroids), with an 83% response to first-line treatment, including 80% for steroids alone. A second-line treatment for SIADs was required for steroid dependence or relapse in 48% of cases. The effect of MDS treatment on SIADs could be assessed in 11 patients treated with azacytidine and SIAD response was achieved in 9/11 (80%) and 6/11 (55%) patients at 3 and 6 months, respectively. Compared with 665 MDS/CMML patients without SIADs, MDS/CMML patients with SIADs were younger (P \textless 0.01), male (P = 0.03), less often had refractory anaemia with ring sideroblasts (P \textless 0.01), more often had a poor karyotype (16% vs 11%, P = 0.04) and less frequently belonged to low and intermediate-1 International Prognostic Scoring System categories, but no survival difference was seen between patients with MDS-associated SIADs and without SIADs (P = 0.5). Conclusion. The spectrum of SIADs associated to MDS is heterogeneous, steroid sensitive, but often steroid dependent

Resume Introduction Le deficit en sphingomyelinase acide conduit a une maladie severe de l’enfant (maladie de Niemann-Pick A) ou a une forme plus attenuee observee a l’âge adulte (Niemann-Pick B) associant une fibrose pulmonaire et une splenomegalie. Observation Un homme de 52 ans atteint de la maladie de Niemann-Pick B se presentait avec une rupture splenique. Une embolisation de l’artere splenique etait initialement realisee. A 3 mois, le volume splenique avait augmente et il existait une asplenie fonctionnelle. La scintigraphie splenique montrait cependant 20 % de parenchyme fonctionnel. Une splenectomie etait finalement decidee en raison d’une necrose complete de la rate. Conclusion Malgre sa contre-indication theorique dans la maladie de Niemann-Pick en raison du risque d’aggravation respiratoire, la splenectomie doit parfois etre realisee.

Background Cutibacterium spp. (formerly Propionibacterium) are slow-growing cutaneous anaerobic commensals, rarely reported in prosthetic joint infections (PJIs). We describe epidemiological, clinical, biological, and radiological characteristics of 15 Cutibacterium avidum PJIs, their treatments, and outcomes. Methods This study is an observational, monocenter study (January 2004 to April 2017), with comparison of C avidum vs Cutibacterium acnes (n = 40) PJI characteristics. Results Among 1179 PJIs treated during the study period, 15 (1%) PJIs were due to C avidum (14 classified as late chronic and 1 as early postoperative). They involved only obese patients with hip arthroplasties (median age 65 years, body mass index 35 kg/m2). Twelve patients' PJIs developed after primary hip arthroplasty. Thirteen patients' last clean operation had used an anterior approach. Fourteen preoperative joint aspirate cultures yielded C avidum. The 14 chronic PJIs were treated with 1-stage exchange arthroplasty, the acute case with excision synovectomy. Antibiotic therapy was administered for 12 [6-13] weeks, intravenously for 4 [2-6] weeks. The most used first-line agents were intravenous clindamycin (n = 8) or cefazolin (n = 6). After median follow-up of 27 [3-136] months, 1 relapse occurred. Compared to C acnes PJI patients, those with C avidum PJIs were significantly younger, had higher body mass indices, had only hip involvement, and had more frequent anterior surgical approach. C acnes PJIs were more frequent after revision arthroplasty. Conclusion C avidum is a rare PJI agent occurring in a particular subpopulation. Joint aspiration is the key diagnostic tool. Our results suggest that PJI risk factors include obesity, primary hip arthroplasty, and anterior surgical approach. Efforts to prevent these infections in high-risk patients should be developed.

Arthritis secondary to invasive meningococcemia is rare and has been described as a direct result of bacteremia or as immunoallergic-type arthritis, related to the immune complex. Only a few case series have been reported. This multicenter study aimed to describe the clinical characteristics and therapeutic outcomes of arthritis secondary to meningococcal infection. We performed a 5-year retrospective study. We included all patients with inflammatory joint symptoms and proven meningococcal disease defined by the identification of Neisseria meningitidis in blood, cerebrospinal fluid, or synovial fluid. Septic arthritis was defined by the identification of N meningitidis in joint fluid. Immune-mediated arthritis was considered to be arthritis occurring after at least 1 day of invasive meningococcal disease without positive joint fluid culture. A total of 7 patients (5 males) with joint symptoms and meningococcal disease were identified. The clinical presentation was mainly oligoarticular and the knee was the most frequent joint site. Five patients had septic arthritis and 4 had immune-mediated arthritis; 2 had septic arthritis followed by immune-mediated arthritis. Immune-mediated arthritis occurred 3 to 7 days after meningococcal meningitis, and treatment with nonsteroidal anti-inflammatory drugs (NSAIDs) led to improvement without complications. Physicians must be vigilant to the different clinical presentations in patients with arthritis associated with invasive meningococcal disease. If immune-mediated arthritis is suspected, NSAIDs are usually efficient.

Introduction Le Propionibacterium spp est un bacille anaerobie a Gram positif a croissance lente, commensal de la peau, faiblement virulent. Propionibacterium acnes est un agent responsable d’infection osteoarticulaires (IOA) sur materiel, notamment sur protheses articulaires. En revanche, P. avidum est beaucoup plus rarement isole, seuls deux cas d’infection de prothese de hanche ont ete decrits. Nous rapportons 13 cas d’infection de prothese articulaire (IPA) a P. avidum. L’objectif principal de notre etude est de decrire les caracteristiques epidemiologiques, cliniques, biologiques et radiologiques des patients ayant une IPA a P. avidum, ainsi que leur prise en charge medicochirurgicale et leur evolution. Materiel et methodes Etude de cohorte prospective, monocentrique de 01/2004 a 07/2016. Parmi 1100 patients ayant une IPA pris en charge dans notre centre de reference des IOA durant cette periode, 13 IPA a P. avidum, confirmees par la culture d’au moins deux prelevements peroperatoires, ont ete incluses. Resultats Il s’agissait d’infections de prothese de hanche dans tous les cas, se developpant chez 7 femmes et 6 hommes d’âge median de 64 ans [43–80] et d’IMC median de 34 kg/m2 [27–43], dont 9 (69 %) etaient obeses et 4 (31 %) en surpoids, tous operes sauf un par voie anterieure. La contamination etait postoperatoire tardive survenant apres un mois chez 12 patients, onze ont presente une douleur, quatre une fistulela CRP mediane etait de 25 [4–31] mg/L. Dans 4 cas, un autre micro-organisme a ete isole en plus [staphylocoque a coagulase negative (3), Corynebacterium striatum (1)]. Le dernier patient a developpe une infection aigue avec installation soudaine de fievre, douleur et impotence fonctionnelle associees a une CRP elevee (166 mg/L). Les 12 IPA chroniques ont ete traitees par un changement en un temps, l’infection aigue par une excision lavage synovectomie. La duree mediane de l’antibiotherapie etait de 12 [6–13] semaines dont 4 [2–6] semaines en IV, suivi d’un relai oral. La duree moyenne du suivi etait de 27 mois [3–144] avec un suivi minimum de 2 ans chez 9 patients. Aucune recidive d’IPA n’a ete observee. Discussion P. avidum est un agent rare d’IPA, atteignant dans notre cohorte que la hanche chez des patients souvent obeses. Conclusion Le changement de prothese en un temps operatoire associe a une antibiotherapie prolongee est le traitement de choix, dans notre experience, des infections de prothese de hanche a P. avidum.

Introduction: The most prevalent etiologies of splenomegaly (SM) easily detected by routine clinical practice are hematological malignancies, portal hypertensions (PH), and hemolytic anemias. However, after these first line diagnoses are ruled out, many cases of SM can remain unexplained. At this point, diagnosis becomes challenging due to the fact that many signs and symptoms can be non-specific, and SM could also be associated to rarer etiologies, such as lysosomal storage diseases (LSD) (e.g. Gaucher disease, acid sphingomyelinase deficiency (Niemann Pick Diseases)). The SplenoMegaly Study (SMS) is a prospective, observational, multi-center, and longitudinal study ongoing in France, which aims to estimate the prevalence of the different etiologies of unexplained SM. We present here preliminary descriptive data on the patients' characteristics and their established diagnosis at follow-up. Methods: Since 2015, all patients aged ≥15 years and referred to the hematology or internal medicine department in 117 French hospitals, with an unexplained SM diagnosis (confirmed by echography or CT-scan with a craniocaudal length ≥13 cm) have been invited to participate. Unexplained cause of SM was defined as a first negative clinical workup based on patient's interview and physical examination, and biological routine tests (including complete blood and reticulocytes count, clotting test, liver enzymes, bilirubin, protein electrophoresis, ESR and CRP). A total of 500 patients will be enrolled. For each patient, last visit takes place at the moment an etiology is identified or up to 12 months after the inclusion. All exams and tests conducted for diagnostic purposes are under each physician's responsibility. Since there is no clinical gold standard for the precise definition of SM, Splenocalc application, adjusting for gender and patient height [Chow and al., 2016], is used to confirm the SM. Results: As of May 2018, 190 consecutive patients (58% male) have been included with a median age of 53 years (16-94 years), a median spleen length of 15 cm (range: 13-30 cm), and 88.6% showed an homogeneous spleen structure. Three patients presented with an obvious diagnosis following the initial workup (n=2, chronic lymphocytic leukemia with lymphocytosis; n=1, sarcoidosis with adenopathies) should not have been included. A total of 129 patients (68%) were considered to have completed the study. Of them, 72 patients (56%) had an established diagnosis. Five categories were identified: lymphoproliferative malignancies (n=20; 27.8%; median age: 66); autoimmune disorders (n=15; 20.8%; median age: 48); myeloproliferative malignancies (n=10; 13.9%; median age: 72); PH (n=10; 13.9%; median age: 62) and other diagnoses, including LSDs (n=17; 23.6%; median age: 40). PH was mainly of nonalcoholic origin. Patients with an established diagnosis were significantly older (median age: 61.5 years vs. 45.0 years; p=0.002) and the SM was significantly greater (mean length: 16.7±3.2 vs. 15.6±2.3 cm; p=0.05) than those with no diagnosis. Hematological malignancies were more common in the oldest patients compared to other diagnostic categories (median age: 66.5; p= Conclusions: Patients who finally have an established diagnosis were older and had a significantly larger spleen than those with no diagnosis. The spleen length cut-off of 13 cm or more seems reliable since almost 9 out 10 cases were confirmed by Splenocalc application. Furthermore, after 12 months of regular medical evaluations, 44% of patients remained with an unexplained SM. This proportion seems to be higher than percentages reported in the literature, but our 12-month follow up period might be too short. The final analysis planned on a total population of 500 patients will estimate the prevalence of each etiology of unexplained SM as well as the exams and tests conducted for diagnosis purpose. Disclosures Denis: Sanofi: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding. Sanhes:Sanofi: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding. Ziza:Sanofi: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding. Bauduer:Sanofi: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding. Berger:Sanofi: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding. Costello:Sanofi: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding. Mehdi:Sanofi: Employment. Michaud:Sanofi: Honoraria, Research Funding. Urbanski:Sanofi: Honoraria, Research Funding. Rose:Sanofi: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding.

Resume Nous rapportons le cas d’une patiente de 84 ans immunocompetente hospitalisee pour un tableau clinique associant cervicalgies intenses et fievre. Le diagnostic d’osteite de l’odontoide a ete fait a l’IRM. Cette infection complique une septicemie a point de depart dentaire a Staphylococcus aureus meticilline-sensible. Secondairement est survenue une deuxieme localisation septique sur sa prothese de hanche. Elle a ete traitee par antibiotherapie intraveineuse puis par voie orale a visee « suppressive » prolongee pendant deux ans. Le changement de prothese n’a pas ete envisage compte tenu de l’âge, du refus de la patiente et des risques de complications neurologiques potentielles lors de l’intubation. L’evolution sous ce traitement a ete favorable avec un recul de plus de deux ans.

International audience; BACKGROUND: The standard-of-care treatment of patients with hepatitis C virus (HCV)-mixed cryoglobulinemia (MC) vasculitis includes pegylated interferon α (PegIFN)-α plus ribavirin and/or rituximab. About 30-40% of patients are non-responders or relapsers to such combination. OBJECTIVE: To analyse the safety and efficacy of Peg-IFNα/ribavirin/protease inhibitor combination in HCV-MC vasculitis. PATIENTS AND METHODS: Open-label, prospective, cohort study including 23 patients with HCV-MC vasculitis. Peg-IFNα/ribavirin was associated to telaprevir (375 mg three times daily, for 12 weeks, (n=15)) or boceprevir (800 mg three times daily, for 44 weeks, (n=8)) for 48 weeks. RESULTS: The median age was 59 (52.5-66) years, with 48.8% women. Thirteen patients (56.5%) were complete clinical responders, and 10 (43.5%) were partial responders at week 24. The virological response (ie, HCV RNA negativation) was of 69.6% at week 24 (p=0.005). The cryoglobulin level decreased from 0.44 to 0.06 g/l (p=0.0006) and the C4 level increased from 0.09 to 0.15 g/l (p=0.045). Grades 3 and 4 adverse events (mainly anaemia, neutropenia and thrombocytopenia) were observed in 10 cases (43.5%). Twenty patients (87%) received erythropoietin, 9 (39.1%) had red cell transfusion, and 2 (8.7%) had granulocyte stimulating agents. Antiviral therapy discontinuation was required in 8 (34.7%) patients for virological non-response (n=5), virological relapse (n=2) and depression (n=1). CONCLUSIONS: Peg-IFNα/ribavirin/protease inhibitor combination seems highly effective in HCV-MC. Such therapeutic regimen should be administered cautiously considering the high rate of side effects.

Resume La nevralgie d’Arnold (NA) est une cephalee paroxystique unilaterale d’origine cervicale secondaire a une irritation ou une compression du grand nerf occipital (GNO) posterieur et/ou du petit nerf occipital. Le diagnostic est evoque devant une symptomatologie clinique unilaterale occipito parietale et une imagerie concordante. Un test anesthesique positif confirme le diagnostic. Les causes en sont multiples. Le diagnostic ne doit etre retenu qu’apres avoir elimine les autres causes de cephalees, et notamment les autres causes de cephalees d’origine cervicale. La NA representerait 8,7 % des nevralgies d’origine cervicale, essentiellement le GNO dans 90 % des cas. La prise en charge therapeutique est parfois difficile d’autant qu’il existe peu de preuves scientifiques de l’efficacite des therapeutiques proposees. Le rhumatologue peut etre amene a intervenir dans la prise en charge de la NA notamment en realisant des infiltrations locales.

Introduction La maladie de Fabry est une maladie genetique liee a l’X a l’origine d’un deficit enzymatique en alpha-galactosidase A lysosomale et d’une accumulation ubiquitaire en glycosphingolipides. On a longtemps considere la maladie de Fabry comme uniquement symptomatique chez les hommes hemizygotes. Il est aujourd’hui indiscutablement etabli que les femmes presentent egalement des formes severes. Avec l’identification de variants « cardiaques » ou « a debut tardif », les estimations de la prevalence de la maladie bien qu’encore discutees ont evolue, de 1/117 000 hommes a 1/3000 naissances vivantes. Tous les organes peuvent etre atteints, les intervenants sont donc varies, expliquant en partie l’impression d’extreme rarete de la maladie. Afin de mieux apprehender l’histoire naturelle de la maladie, ses problematiques, mais aussi permettre des etudes fondamentales, la base nationale collaborative de donnees French FAbry Biobank and RegistrY (FFabry) a ete initiee. Patients et methodes De decembre 2014 a janvier 2017, 15 centres de specialite medicales differentes (medecine interne, nephrologie, endocrinologie, neurologie, cardiologie, genetique medicale) ont permis l’inclusion et le recueil de donnees de 103 patients (53 hommes, 50 femmes), representant plus de 44 mutations differentes. Les donnees ont ete recueillies retrospectivement d’apres les dossiers medicaux. Les donnees manquantes ont ete exclues de l’analyse. Resultats Concernant les hommes, l’âge moyen etait de 44,4 ans (min–max 17,5–74,2), la duree moyenne de suivi depuis le diagnostic de 8 ans (0–36 ans). Outre les acroparesthesies observees chez 38/52 patients (73,1 %), la symptomatologie etait dominee par l’atteinte cardiaque avec une cardiopathie hypertrophique notee chez 33/52 patients (63,5 %), des troubles du rythme chez 16/52 (30,8 %), des troubles de conduction egalement observes chez 16/52 (30,8 %) necessitant un pacemaker chez 9/52 (17,3 %) a un âge median de 51,6 ans. Deux freres etaient greffes cœur + rein. Une maladie renale chronique etait connue chez 25/52 patients (48,1 %) dont 8 patients en insuffisance renale terminale, tous ayant beneficie d’une greffe renale a un âge median de 34,6 ans. Six hommes (11,5 %) ont presente un accident vasculaire cerebral ischemique constitue avant 50 ans sans cardiopathie rythmique. L’IRM cerebrale etait pathologique chez 15/24 patients, dominee par des hypersignaux FLAIR de la substance blanche de presentation aspecifique. Quarante-cinq patients etaient traites par enzymotherapie substitutive (agalsidase alfa 21, agalsidase beta 24). Une enzymotherapie etait debute chez 3 nouveaux patients, tandis que la proteine chaperone etait prescrite chez 3 patients dont 2 en relais d’enzymotherapie soit une couverture therapeutique de 50/53. Concernant les femmes, l’âge moyen etait de 49 ans (16,7–75,4), la duree de suivi moyenne depuis le diagnostic de 6,5 ans (0–26 ans). Moins frequentes, les douleurs concernaient neanmoins 28/44 patientes (63,6 %). La maladie renale etait au premier plan affectant 23/50 patientes (46,0 %) mais plus tardive : 19 patientes (82,6 %) avaient plus de 45 ans dont 7 plus de 60 ans. Deux patientes avaient beneficie d’une greffe renale. De facon surprenante, une atteinte neurovasculaire affectait 23,4 % des patientes avec un antecedent d’AVC ischemique constitue chez 9/47 patientes a un âge median de 42,9 ans, 1 AVC hemorragique et 1 AIT. Les IRM cerebrales etaient egalement pathologiques chez 22/30 toujours dominees par des hypersignaux FLAIR (50 %). Une cardiopathie hypertrophique etait presente chez 16/42 patientes avec des troubles du rythme et de conduction chez respectivement 16/48 (33,3 %) et 10/47 (21,3 %) des patientes ayant conduits a l’implantation de pacemaker chez 4 femmes a un âge median de 58,4 ans. Seules 28 patientes etaient traitees (agalsidase : 26, migalastat : 2). Parmi les 21 patientes non traitees et n’ayant jamais recu de traitement specifique (âge moyen 43,4 ans), on notait une insuffisance renale debutante chez 5, une cardiopathie hypertrophique chez 3, un antecedent d’AVC chez 2 et une IRM cerebrale pathologique chez 5. Conclusion Le spectre clinique de la maladie de Fabry reste a etoffer, plus encore alors que les therapies disponibles sont couteuses. Cette etude descriptive met en lumiere l’importance de la cardiopathie chez les hommes et des accidents neurovasculaires chez les femmes, ainsi que la plus faible couverture therapeutique de ces dernieres.

Resume La maladie de Dupuytren est une fibrose retractile de l’aponevrose palmaire entrainant une flexion irreductible et progressive des doigts responsable d’un handicap fonctionnel parfois majeur. Elle affecte plusieurs millions de sujets en Europe et en Amerique du Nord. Ses facteurs de risque sont genetiques et parfois lies au diabete. Il n’y a pas d’amelioration spontanee. Si la chirurgie representait jusqu’a un passe recent le seul traitement, l’aponevrotomie percutanee a l’aiguille apparait etre une alternative therapeutique valable qui doit etre realisee en premiere intention par un praticien experimente. Les resultats a court et a long terme de l’aponevrotomie percutanee a l’aiguille apparaissent, en effet, identiques a ceux du traitement chirurgical mais les complications sont moindres. Elle est indiquee pour les formes palmaires pures, palmodigitales ou digitales pures. Le « test de la table » permet d’evaluer la perte d’extension liee a la maladie de Dupuytren et de poser l’indication de l’aponevrotomie. Il conviendra de definir un consensus medicochirurgical sur la prise en charge de cette maladie.