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Background Livedo is a well-known skin condition in patients with systemic lupus erythematosus (SLE) which correspond to small vessels involvement. The influence of antiphospholipid antibodies (aPL) on the occurrence of livedo is controversial. The aim of our study was to estimate the risk of livedo associated with aPL in patients with SLE. Methods We conducted a systematic review and meta-analysis of the literature from 1977 to 2021 to estimate the risk of livedo in SLE patients according to different aPL profiles. Data sources were PubMed, Embase, Cochrane Library, hand search, and reference lists of studies. Studies were selected if they included SLE patients with descriptions of the exposure to aPL and the outcome ( livedo). Two independent investigators assessed study eligibility, quality, and extracted patient characteristics from each study as well as exposure (aPL) and outcome ( livedo). Risk estimates were pooled using random effects models and sensitivity analyses. For all stages of the meta-analysis, we followed the PRISMA guidelines. PROSPERO registration number: CRD42015027377. Results Of the 2,355 articles identified, 27 were included with a total of 4,810 SLE patients. The frequency of livedo was 25.5% in aPL-positive patients and 13.3% in aPL-negative patients. The overall Odds Ratio (OR) for livedo in aPL-positive patients compared to aPL-negative patients was 2.91 (95% CI; 2.17–3.90). The risk of livedo was significantly increased for most of aPL subtypes, including lupus anticoagulant (LA) (OR = 4.45 [95% CI; 2.21–8.94]), IgG anticardiolipin (OR = 3.95 [95% CI; 2.34–6.65]), and IgG anti-β2-glycoprotein 1 (OR = 3.49 [95% CI; 1.68–7.27]). Conclusions We demonstrated in this meta-analysis an excess risk of livedo in aPL-positive SLE patients compared to aPL-negative patients. For daily practice, in patients with SLE, livedo associated with aPL could correspond to a peculiar group of patients with small vessel disease. Livedo could be a good candidate for inclusion in future classification criteria for antiphospholipid syndrome.

Background Endothelial damage has been described in antiphospholipid antibody (aPL)-positive patients. However, it is uncertain whether circulating endothelial cells (CECs)—which are released when endothelial injury occurs—can be a marker of patients at high risk for thrombosis. Methods Ninety-seven patients with aPL and/or systemic lupus erythematosus (SLE) were included. CECs were determined by an automated CellSearch system. We also assayed plasma levels of tissue factor-bearing extracellular vesicles (TF+/EVs) and soluble triggering receptor expressed on myeloid cells 1 (sTREM-1) as markers of endothelial dysfunction/damage. Results Patients' mean age was 46.1 ± 13.9 years, 77 were women. Thirty-seven had SLE and 75 patients were suffering from antiphospholipid syndrome. Thirty-seven percent of patients presented a medical history of arterial thrombosis and 46% a history of venous thromboembolism (VTE). Thirteen patients had increased levels of CECs (>20/mL), with a mean CEC level of 48.3 ± 21.3 per mL. In univariate analysis, patients with obesity or medical history of myocardial infarction (MI), VTE, or nephropathy had a significant increased CEC level. In multivariate analysis, obesity (odds ratio [OR] = 6.07, 95% confidence interval [CI]: 1.42–25.94), VTE (OR = 7.59 [95% CI: 1.38–41.66]), and MI (OR = 5.5 [95% CI: 1.1–26.6)] were independently and significantly associated with elevated CECs. We also identified significant correlations between CECs and other markers of endothelial dysfunction: sTREM-1 and TF+/EVs. Conclusion This study demonstrated that endothelial injury assessed by the levels of CECs was associated with thromboembolic events in patients with aPL and/or autoimmune diseases.

Microvascular renal lesions have been described in patients with antiphospholipid antibodies (aPL), however their association with aPL is inconsistent among studies. Therefore, our objective was to investigate associations between microvascular renal lesions and aPL among systemic lupus erythematosus (SLE) patients.Studies were selected if they included SLE patients with and without aPL positivity with a description of kidney biopsy identifying acute and/or chronic microvascular renal lesions as well as lupus nephritis. Data sources were Pubmed, Embase, Cochrane Library, hand search, congress abstracts, and reference lists of studies, without language restrictions. Risk estimates were independently extracted by 2 investigators. Pooled effect estimates were obtained by using the Mantel-Haenszel method (random effects).Of 1860 identified records obtained between 1991 and 2021, 35 published studies (10 cohorts, 7 case-control, 18 cross-sectional) met inclusion criteria, including 3035 SLE patients according to American College of Rheumatology criteria and 454 cases of microvascular renal lesions. Frequency of microvascular renal lesions in aPL-positive vs. aPL-negative SLE patients was 31.3% vs. 10.4%, respectively. The overall pooled odds ratios (OR) for microvascular renal lesions in aPL-positive vs. aPL-negative SLE patients was 3.03 (95% confidence interval [CI], 2.25-4.09). The risk of microvascular renal lesions was the highest for lupus anticoagulant (OR = 4.84 [95% CI, 2.93 to 8.02]) and IgG anticardiolipin antibodies (OR = 3.12 [95% CI,1.08-9.02]) while the association with anti-βIn SLE patients, aPL-positivity is associated with a significant 3- to 5-fold increased risk for specific microvascular renal lesions. This risk is mainly driven by lupus anticoagulant and IgG anticardiolipin antibodies. Our results support the inclusion of microvascular renal lesions as new criteria for definite antiphospholipid syndrome.

Background Antibodies binding to domain I of β2-glycoprotein I (aDI) and activated protein C (APC) resistance are associated with an increased risk of thrombosis in cross-sectional studies. The objective of this study was to assess their predictive value for future thromboembolic events in patients with antiphospholipid antibodies (aPL) or antiphospholipid syndrome. Methods This prospective multicenter cohort study included consecutive patients with aPL or systemic lupus erythematosus. We followed 137 patients (43.5 ± 15.4 year old; 107 women) for a mean duration of 43.1 ± 20.7 months. Results We detected aDI IgG antibodies by ELISA in 21 patients. An APC sensitivity ratio (APCsr) was determined using a thrombin generation–based test. The APCsr was higher in patients with anti–domain I antibodies demonstrating APC resistance (0.75 ± 0.13 vs 0.48 ± 0.20, P 95th percentile; HR, 6.07 [95% CI, 1.69–21.87]; P = 0.006). A sensitivity analysis showed an increased risk of higher aDI IgG levels up to HR 5.61 (95% CI, 1.93–16.31; P = 0.01). In multivariate analysis, aDI IgG (HR, 3.90 [95% CI, 1.33–11.46]; P = 0.01) and APC resistance (HR, 4.98 [95% CI, 1.36–18.28]; P = 0.02) remained significant predictors of thrombosis over time. Conclusions Our study shows that novel tests for antibodies recognizing domain I of β2-glycoprotein I and functional tests identifying APC resistance are significant predictors of thrombosis over time and may be useful for risk stratification.

Direct oral anticoagulants (DOACs) are widely used for secondary prevention of venous thromboembolism (VTE) but their clinical efficacy and safety are not established in Antiphospholipid Syndrome (APS) patients. There is only one randomized controlled trial published while others are still ongoing. Many non-randomized studies have been published in this field with conflicting opinions.We conducted a systematic review using MEDLINE, EMBASE and Cochrane databases from 2000 until March 2018 regarding APS patients treated with DOACs. We performed a patient-level data meta-analysis to a) estimate the prevalence of recurrent thrombosis in APS patients treated with DOACs in the literature, and b) identify variables associated with recurrent thrombosis.We identified 47 studies corresponding to 447 APS patients treated with DOACs. Three commercially available DOACs were analyzed: rivaroxaban (n = 290), dabigatran etexilate (n = 144) and apixaban (n = 13). A total of 73 out of 447 patients (16%) experienced a recurrent thrombosis while on DOACs with a mean duration until thrombosis of 12.5 months. Rates of recurrent thromboses were 16.9% and 15% in APS patients receiving either anti-Xa inhibitors or dabigatran respectively. Triple positivity (positivity for all three antiphospholipid antibodies) was associated with a four-fold increased risk of recurrent thrombosis (56% vs 23%; OR = 4.3 [95%CI; 2.3-7.7], p 0.0001) as well as a higher number of clinical criteria for APS classification. In patients treated with anti-Xa inhibitors, history of arterial thrombosis was associated with a higher risk of recurrent thrombosis (32% vs 14%; OR = 2.8 [95%CI; 1.4-5.7], p = 0.006). In conclusion, DOACs are not effective in all APS patients and should not be used routinely in these patients. Randomized controlled trials assessing clinical efficacy and safety as primary endpoints are underway. In the meantime, a registry of APS patients on DOACs could be proposed to establish in which APS subgroups DOACs would be a safe alternative to warfarin.

Resume Objectifs La medecine vasculaire est maintenant une specialite. Au cours du cursus, les etudiants devront acquerir, outre les habiletes techniques, des competences semiologiques indispensables en consultation. Les examens cliniques objectifs structures (ECOS) sont consideres comme l’instrument s’approchant de l’evaluation ideale de la competence clinique. Notre objectif principal est d’evaluer la faisabilite et l’acceptabilite de ce type d’epreuve, secondairement les performances des etudiants. Methodes Trois cas cliniques representatifs de la specialite ont ete elabores. Les ECOS etaient composes d’une sequence de situations cliniques presentees dans trois « stations » de 7 minutes chacune. Le role du patient simule etait tenu par des etudiants en medecine. A la fin de l’ECOS, les observateurs et etudiants ont complete la grille d’evaluation dediee. Nous avons effectue une comparaison statistique des performances des etudiants en medecine vasculaire juniors et seniors. La satisfaction des candidats a ete evaluee par questionnaire. Resultats Nous n’avons pas rencontre de difficulte dans le developpement et l’organisation de l’examen. Quinze etudiants ont ete evalues. Tous les participants ont apprecie ce type d’examen et confirme que les situations cliniques etaient realistes et les patients simules credibles. La performance des etudiants seniors a ete statistiquement superieure a celle des juniors sur un cas. Discussion Cette premiere experience prouve la faisabilite et l’acceptabilite de l’ECOS dans l’enseignement des etudiants en medecine vasculaire comme outil pedagogique et d’evaluation formative utilisable en complement des autres methodes disponibles. Le petit nombre de stations et de candidats necessite la realisation d’etudes complementaires a plus large echelle pour evaluer leurs performances.

A 42-years-old woman was admitted for a spontaneous dissection of the terminal abdominal aorta (Figure 1, panel A, arrow), associated with an arteriovenous fistula between the false channel of left...

This report describes a rare case of pericardial effusion owing to Actinomyces odontolyticus in a 52-year-old woman that originated from a dentigerous cyst, which developed on the distal aspect of a lower left third molar. The cyst had remained asymptomatic for a long period, with no specific functional complications. This is the first case report of a patient with acute pericarditis in which the same strain of A odontolyticus was detected in an asymptomatic dentigerous cyst and in the pericardial fluid.

La Presse Medicale - In Press.Proof corrected by the author Available online since jeudi 7 janvier 2016

Background Relapses upon corticosteroids tapering and immunosuppressive agents are frequent in Takayasu arteritis (TA). Interleukin-6 is highly involved in physiopathology of TA. Many reports showed efficacy of tocilizumab (TCZ) in refractory TA cases. We report four cases and an updated literature review on the TCZ efficacy and safety in patients with TA. Methods Patients with TA defined by ACR 1990 criteria were included. Clinical, biological and imaging data were retrospectively reported. Disease activity was analyzed before TCZ and during the follow-up. Medline database was searched for systematic literature review. Results One hundred and five patients (median age 28 years [22–38]) were included, mostly refractory cases (76 patients, 72%). Median TCZ duration was 12 months [6–20]. Among 105 patients, 90 patients (85.7%) had an initial clinical response within three months [3–6] and 43/66 patients (65.2%) had a radiological improvement. Only seven patients (9%) showed relapse on therapy. Corticosteroid dose reduction was obtained in 75/83 patients (90.4%). Relapse after TCZ discontinuation was observed in six patients (46%), with a median time of five months [2–9]. Twenty-four side-effects were noted in 18 patients (18%), with TCZ interruption in seven cases (7%): 10 infections, five cytopenia, six hepatitis, one pancreatitis, one cutaneous rash and one breast cancer. Conclusions This review confirms that TCZ is safe and effective in refractory cases of TA and TCZ is a corticosteroid-sparing therapy in patients with or without previous TNFα blockers therapy. However relapses after TCZ discontinuation are frequent.

Antiphospholipid antibody syndrome (APS) is characterized primarily by thrombosis and pregnancy morbidity. Chronic vascular lesions can also occur. While the underlying mechanisms of these vascular lesions are not entirely known, there have been multiple theories describing the potential process of vasculopathy in APS and the various clinical manifestations associated with it. Recently, it has been demonstrated that endothelial proliferation in kidneys can be explained by the activation of the mammalian target of rapamycin complex (mTORC) pathway by antiphospholipid antibodies (aPL). These data support the existence of an APS-related vasculopathy in different locations which can explain—in part—the different manifestations of APS. This review focuses on the various manifestations of APS as a result of APS-related vasculopathy, as well as pathophysiology, current screening, and treatment options for clinicians to be aware of.

We report an original case of reversible antiphospholipid syndrome (APS) due to minocycline in a young male patient who experienced recurrent strokes while taking minocycline. He started minocycline therapy (50 mg twice daily) at 15 years old for acne. After three years of treatment, the patient experienced a lateral medullary syndrome. He was treated with aspirin while minocycline was continued. Eighteen months later, the patient complained about horizontal binocular diplopia. MRI revealed an infarct of the oculomotor nerve nucleus. Laboratory investigations revealed high titers of anti-beta 2 glycoprotein 1 (antiβ2GP1) antibodies of 470 U/ml (normal range15 U/ml) and antiphosphatidylethanolamine antibodies of 137.4 U/ml (normal range18 U/ml). Other laboratory tests were normal. Six weeks after discontinuation of minocycline, anti-β2GP1 antibodies decreased to 335 U/ml and to 36 U/ml at six months and then remained negative for six years. Many drugs have been considered as possibly causing APS but only in a limited number of patients. To our knowledge this is the first case of drug-induced APS with complete disappearance of high titers of anti-β2GP1 antibodies after minocycline withdrawal. This case also illustrates the need to monitor the levels of antiphospholipid antibodies, even though initial values are high and confirmed after 12 weeks.

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A 19-year-old man was admitted in our tertiary care center in August 2014 for a 10-kg weight loss in a few months (48 kg, 1.80 m, and body mass index, 14.8 kg/m2), claudication in the lower limbs after a 500-m distance and a postprandial abdominal pain associated with mild renal insufficiency and proteinuria with no hypertension (100/80 mm Hg). The patient had no medical history and was an active smoker (tobacco and cannabis, estimated consumption: 2 pack-years). Laboratory parameters were elevated leukocyte count (13×109/L), C-reactive protein level (55 mg/L), creatinine (14 mg/L), and B-natriuretic peptide (4246 pg/mL). No thrombophilia, autoimmune disorders, or viral infections were identified. The patient underwent a B-mode Doppler ultrasound that showed multiple proximal arterial occlusions and stenoses of large vessels confirmed by a computed tomographic angiography: occlusions of bilateral subclavian arteries, superior and inferior mesenteric arteries, and right renal artery with kidney atrophy were found (Figure 1A). Furthermore, significant stenoses of celiac artery, left renal artery (Figure 1B), right internal iliac artery, and bilateral superficial femoral arteries were identified. A discrete circumferential thickening of the abdominal aorta was suggestive of aortitis. Cervical magnetic resonance angiography showed a complete occlusion of both subclavian and vertebral arteries (Figure 2). Transthoracic echocardiography revealed a severe left ventricular (LV) systolic dysfunction (LV ejection fraction …

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A 57-year-old man presented to the emergency department with an 8-day history of abdominal and suprapubic pain radiating in the back associated with fever (38.6°C), myalgia, and a painful rectal examination. A treatment with ofloxacin had been prescribed for a suspected prostatitis. His past medical history included overweight and current cigarette smoking (30 pack-year). Clinical examination found a tense and nondepressible abdomen without nausea or vomiting. On auscultation, he had an abdominal vascular murmur. Computed tomography angiography performed on day 1 revealed a moderate aneurysmal dilation of the infrarenal abdominal aorta with a maximal diameter of 25 mm along with a thickened wall, a periaortic infiltration, and thrombus (Figure 1A). Biological investigations revealed an elevated leukocyte count (14 780/mm3 with 92.5% neutrophils) and a high C-reactive protein level (256.4 mg/L), but no serological evidence for syphilis, HIV, hepatitis B or C infections, and negative standard bacterial and mycobacterial blood cultures. The persistence of abdominal pain and biological inflammation led to that performance of a new computed tomography angiography on day 4. It …

Introduction La maladie de Lyme est une pathologie repandue et qui presente un tableau clinique tres polymorphe. L’incidence de la maladie est de 43 cas pour 100 000 habitants, variable en fonction des regions. Objectif Le but de ce travail est de presenter une manifestation tres particuliere d’infection a Borrelia burgdorferi. Probleme Une femme de 64 ans etait vue en consultation de medecine vasculaire pour avis sur une lesion tumorale a surface angiomateuse evoluant depuis un an et demi. La patiente avait deja beneficie de deux embolisations arterielles sans succes de reduction de sa taille. Un petscanner montrait une infiltration intensement hypermetabolique sous-cutanee et musculaire du pied droit et une IRM montrait une infiltration des parties molles sans anomalie vasculaire evidente. La patiente a beneficie par ailleurs de biopsies, et une concertation pluridisciplinaire a pu etre organisee. Resultats Les prelevements histologiques orientaient finalement vers une origine infectieuse avec un infiltrat dermique constitue de polynucleaires neutrophiles, de plasmocystes et de cellules geantes multinucleees. Devant l’infiltrat lymphohistiocytaire et plasmocytaire, une serologie syphilis est revenue negative mais la serologie de Lyme est revenue fortement positive en IgM et en IgG en faveur d’une maladie de Lyme. Conclusion Le tableau clinique de la maladie de Lyme semblait deja tres polymorphe. Cette observation nous montre un cas particulier d’infection a B. burgdorferi, avec une atteinte particuliere des parties molles au niveau d’un membre, de localisation et d’aspect macroscopique (surface angiomateuse), tres atypique.

Introduction Le syndrome de Marfan est une aortopathie proximale rare de transmission autosomique dominante, avec des complications cardiovasculaires, musculo-squelettiques et oculaires. Les atteintes vasculaires peripheriques sont peu decrites dans la litterature et representent rarement une manifestation initiale de la maladie. Nous rapportons un cas atypique de volumineux anevrysme de l’aorte abdominale revelateur d’un syndrome de Marfan associe a une nouvelle mutation de FBN-1. Cas clinique Un homme de 31 ans est hospitalise pour la prise en charge d’une douleur dorsale chronique atypique. Un angioTDM revele un volumineux anevrysme de l’aorte abdominale s’etendant sur 110 mm de long et 87 mm de large, sous les ostias des arteres renales, avec un thrombus de 40 mm intramural sans calcifications ni atherome du reseau vasculaire. Il est opere en urgence d’une mise a plat greffe avec remplacement prothetique de cet anevrysme. L’examen anatomopathologique est en faveur d’une elastopathie. Les criteres majeurs de Gand retrouves comprennent un anevrysme de l’aorte ascendante au niveau du sinus de Valsalva a 46 mm et une mort subite chez le pere. Les criteres mineurs regroupent scoliose, pectus excavatum, chevauchement des dents et palais ogival. Le diagnostic de Marfan est evoque et confirme par le test genetique avec identification d’une nouvelle mutation heterozygote du gene FBN-1 jamais decrite jusqu’alors (exon 57, p.Cys2364Arg). Conclusion Notre cas clinique illustre la grande variabilite phenotypique du syndrome de Marfan et ses difficultes diagnostiques. En effet, le syndrome de Marfan est connu pour etre une aortopathie purement proximale, cependant, notre cas suggere que devant tout anevrysme atypique de l’aorte abdominale, le diagnostic doit etre recherche. De plus, il semble important de depister les anevrysmes de l’aorte abdominale chez les patients atteints de syndrome de Marfan. Enfin, la decouverte d’une mutation non connue a ce jour associee a une manifestation atypique pose la question d’une relation genotype-phenotype.

Objectif Les anevrismes infectieux ou mycotiques de l’aorte abdominale dus a Haemophilus Influenzae sont une maladie rare mais letale. Ces anevrismes ont une croissance rapide et tendent vers la rupture. A propos d’un patient de 57 ans dont le diametre aortique a evolue de 34 mm a 42 mm en 18 jours dans un contexte inflammatoire biologique et des signes generaux cliniques, nous presentons les imageries et analysons la conduite a tenir medicale et chirurgicale de cette pathologie. Resultats Le patient a beneficie d’echographies abdominales regulieres jusqu’a l’apparition d’un aspect prefissuraire confirme par l’echographie de contraste. Le scanner a retrouve une nette majoration du diametre anevrismal. Face a l’evolution rapide de diametre et la non-amelioration clinico-biologique, le patient a beneficie d’une mise a plat de l’anevrisme de l’aorte sous-renale associee a la pose d’une prothese aortique tube droit. Le diagnostic positif a ete confirme par l’identification d’Haemophilus Influenzae ADNr 16S sur la paroi aortique. Discussion Le diagnostic d’anevrisme mycotique n’est pas aise et repose souvent sur la croissance rapide du diametre anevrismal, avec le risque de rupture permanent au cours de ce suivi. Des imageries multi-modales associees aux elements clinico-biologiques sont indispensables. Concernant le traitement, la reparation aortique endovasculaire (EVAR) associee a l’antibiotherapie a montre de bons resultats, meme a long terme. Cependant, le diagnostic doit alors etre certain avant chirurgie. Conclusion Des guidelines sur le diagnostic et le traitement des anevrismes infectieux sont encore necessaires et pourraient viser a construire des criteres diagnostiques cliniques et d’imagerie permettant ensuite d’adapter la strategie therapeutique.

Introduction La maladie de Takayasu refractaire est une pathologie rare. L’incidence de la maladie est de 1,2–2,6 cas/million/an. Le taux de corticoresistance est de 50 %. Parmi les 50 % restants, l’adjonction d’un immunosuppresseur permet de controler la maladie chez moins de la moitie des patients qui restaient evolutifs. Le but de ce travail est de presenter une observation de remission sous Tocilizumab chez une jeune patiente avec une forme refractaire. Probleme Une jeune fille de 13 ans etait vue en consultation de pediatrie pour bilan d’une asthenie subfebrile. Une maladie de Takayasu etait diagnostiquee. La patiente a beneficie des trois premieres lignes therapeutiques : par corticotherapie, methotrexate et remicade. Malgre cela, son etat ne s’ameliorant pas, sa maladie de Takayasu fut consideree comme refractaire. Il existait une atteinte de la paroi aortique, des trois arteres de la gerbe aortique (notamment de la carotide interne gauche et de la sous-claviere gauche) et une stenose de l’artere humerale droite. Resultats De ce fait, un traitement par anti-IL6, « Tocilizumab », fut mis en place (8 mg/kg). Deux semaines apres l’introduction du traitement, l’etat general s’ameliora spectaculairement, son bilan inflammatoire biologique se normalisa completement (VS et CRP). Le morpho-TEP ne montrait plus aucun signe inflammatoire a 3 mois. Conclusion Les epaississements des parois dans les formes resistantes sont objectives par l’echo-Doppler, l’angio-scanner et l’IRM, et sont reveles au PET scanner par une hyperfixation. Le traitement repose en premiere ligne sur les corticoides, le methotrexate, puis les anti-TNF alpha. Une quatrieme ligne semble efficace pour les formes refractaires, le Tocilizumab. La reponse est rapidement obtenue chez le jeune sujet refractaire et, d’autre part, stable sur plusieurs annees avec une surveillance basee sur le bilan inflammatoire biologique et le PET scanner.

Introduction La maladie de Takayasu (MT) est une vascularite des gros vaisseaux du sujet jeune, dont le diagnostic est base sur un faisceau d’arguments cliniques et paracliniques, mais non histologiques. Methodes Nous rapportons un cas d’aortite granulomateuse ayant mene au diagnostic de MT. Resultats Une patiente de 47 ans, d’origine armenienne, presentait en octobre 2014 un tableau d’insuffisance cardiaque globale, lie a une insuffisance aortique non connue. Dans les 6 mois suivants, elle presentait plusieurs episodes de decompensation. L’indication chirurgicale etait donc retenue avec realisation d’un remplacement valvulaire aortique en aout 2015. L’analyse histologique retrouvera au niveau de l’aorte une degenerescence myxoide marquee avec fibrose et inflammation essentiellement mediale, un marquage IgG4 negatif, ainsi qu’un granulome epithelioide et gigantocellulaire a la jonction intima-media, concluant a une aortite granulomateuse. La patiente etait adressee en medecine vasculaire pour bilan etiologique. On notait une anisotension avec une tension arterielle systolique a 90 mmHg a gauche et 120 mmHg a droite, un pouls radial mal percu a gauche, sans souffle vasculaire. Il existait un syndrome inflammatoire franc (CRP 70 mg/L, fibrinogene 7 g/L), une hypergammaglobulinemie, des c-ANCA de specificite paradoxalement anti-MPO (40 U/mL), sans arguments clinique ou paraclinique pour une vascularite des petits vaisseaux (pas d’atteinte ORL, renale ou pulmonaire, pas de signes cutanes, pas de proteinurie). Les explorations bacteriologiques (hemocultures, PCR ARN 16S PCR Mycobacterium tuberculosis sur valve, TPHA VDRL) etaient negatives. Le TEP scanner retrouvait un hypermetabolisme de l’aorte thoracique, ainsi qu’au niveau de l’artere sous-claviere gauche, avec un epaississement circonferentiel et signe du halo en echo-Doppler. Le diagnostic de MT etait retenu selon les criteres d’Ishikawa modifies (2 criteres majeurs et 2 criteres mineurs). Une corticotherapie per os etait donc debutee. Conclusion La mise en evidence histologique d’une aortite granulomateuse est un evenement rare. Elle doit mener a une demarche diagnostique exhaustive. L’association a une anisotension chez une femme de moins de 50 ans doit faire evoquer en premier lieu une maladie de Takayasu.

Introduction Le syndrome de Marfan (SM) est une maladie hereditaire du tissu conjonctif, de transmission autosomique dominante, liee a une mutation du gene FBN1 codant pour la fibrilline-1. Nombre de mutations. Methodes Nous decrivons le phenotype de 3 apparentes porteurs d’une variation faux-sens du gene FBN1, jamais decrite precedemment. Resultats Un variant faux-sens au sein de l’exon 34 du gene FBN1 (p.Leu1405Arg) a l’etat heterozygote etait identifie chez une patiente de 28 ans, devant un morphotype marfanoide (grande taille, longiligne, cyphoscoliose, pectus exavatum et arachnodactylie), et la presence d’une ballonisation de la grande valve mitrale, avec aspect en bulbe d’oignon du sinus de Valsalva. L’enquete familiale mettait en evidence le meme variant chez son pere âge de 57 ans, ainsi que chez sa sœur, âgee de 25 ans. Il n’etait cependant pas retrouve de signe clinique en faveur d’un SM chez le pere et la sœur de la patiente. Les IRM lombaires, ainsi que les examens ophtalmologiques etaient normaux, hormis une myopie chez les trois patients. L’echocardiographie transthoracique etait normale chez la sœur de la patiente, mais a mis en evidence une dystrophie mitrale avec ballonisation de la grande valve mitrale chez son pere, compliquee d’une insuffisance mitrale de type II, ainsi qu’une dilatation de l’aorte initiale au niveau du sinus de Valsalva (24 mm/m2). Apres une rupture de suivi, le pere est decede a l’âge de 59 ans de maniere brutale d’un arret cardio-respiratoire d’etiologie indeterminee. Conclusion Bien que la significativite d’un tel variant du gene FBN1 reste a determiner, la mise en evidence d’anomalie de la valve mitrale chez 2 des 3 porteurs de ce variant, ainsi que le deces d’etiologie indeterminee du pere, doit conduire a maintenir une surveillance reguliere, notamment echocardiographique, de l’ensemble des patients porteurs de ce variant.