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1. Quality of life in monogenic autoinflammatory diseases. A review

Author

Isabelle Touitou, Eric Jéziorski, Afnan Al-Saleh, Aurélia Carbasse, and Maryam Piram

Subjects
Rheumatology
Abstract

Systemic autoinflammatory diseases (SAIDs) are a group of disorders related to defective regulation of the innate immune system. Recurrence of inflammation can severely affect the patients' outcomes with a direct or indirect impact on their physical and mental health and/or global quality of life (QoL). We therefore sought to identify currently available QoL studies for these diseases as well as measurement tools at our disposal.A systematic literature review was carried out with a focus on monogenic SAIDs. We inventoried the study designs developed in the selected publications, grouped them into similar topics, and listed the different outcome measures used for QoL.We recorded 53 bibliographic references evaluating the impact of monogenic SAIDs on the patients' QoL. These publications revealed 150 different study designs and 82 outcome measures used for their assessment. The best-explored topics were the overall patients' QoL, followed by the evaluation of their psychosocial and physical functioning. We found fair coverage of familial Mediterranean fever, poor investigation of the mixed hereditary recurrent fever (HRF) group, cryopyrin-associated periodic diseases and cherubism, and almost no study of the other monogenic SAIDs.This work revealed areas requiring further investigation such as homogenization of concepts, study of uncommon or more recent diseases, and development of more specific and validated outcome measures for SAIDs.

Published
2023

2. Boundaries between familial Mediterranean fever and juvenile spondyloarthritis: Analysis of three French retrospective cohorts

Author

Isabelle Touitou, Véronique Hentgen, Isabelle Koné-Paut, P. Dusser, Maryam Piram, Sophie Georgin-Lavialle, Linda Rossi-Semerano, Caroline Galeotti, Bilade Cherqaoui, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de Rhumatologie [CHU Bicêtre], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre

Subjects
Male, 0301 basic medicine, Heterozygote, Pediatrics, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], Familial Mediterranean fever, Gout Suppressants, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Rheumatology, Spondylarthritis, Ethnicity, Humans, Medicine, Colchicine, Juvenile Spondyloarthritis, Child, ComputingMilieux_MISCELLANEOUS, HLA-B27 Antigen, Retrospective Studies, 030203 arthritis & rheumatology, business.industry, Infant, DNA, Somewhat difficult, Pyrin, MEFV, medicine.disease, Familial Mediterranean Fever, 3. Good health, 030104 developmental biology, chemistry, Child, Preschool, Mutation, Female, France, business
Abstract

Children with Familial Mediterranean fever may suffer from musculoskeletal involvement, somewhat difficult to distinguish from juvenile spondyloarthritis. The association of these two diseases has been scarcely reported in children. Objective of this work was to define the association of familial Mediterranean fever and juvenile spondyloarthritis in France.Three cohorts of children with familial Mediterranean fever, juvenile spondyloarthritis, familial Mediterranean fever related juvenile spondyloarthritis, were retrospectively identified in the French reference center of auto-inflammatory diseases. Familial Mediterranean fever was defined according to Tel-Hashomer or Turkish pediatric criteria with at least one exon-10 MEFV-gene mutation. Juvenile spondyloarthritis was defined according to ILAR criteria. Patients with familial Mediterranean fever or juvenile spondyloarthritis were respectively compared to familial Mediterranean fever related juvenile spondyloarthritis patients.Sixteen children were identified as having familial Mediterranean fever related juvenile spondyloarthritis. The male/female-ratio was 0.6, with median age at spondyloarthritis onset of 7.5years (3-16years). All carried at least one M694V variant in MEFV gene; 16.7% were HLA-B27-carriers. Compared to 83 familial Mediterranean fever patients, familial Mediterranean fever related juvenile spondyloarthritis patients had less frequently fever (P0.01) and more frequently arthritis (P0.05), enthesitis (P0.001), inflammatory back pain (P0.001), inadequate response to colchicine (P0.05). Compared to 20 juvenile spondyloarthritis patients, familial Mediterranean fever related juvenile spondyloarthritis patients less often received non-steroidal anti-inflammatory drugs (P0.01) and anti-tumor necrosis factor drugs (P0.001).Familial Mediterranean fever may be associated with typical pattern of juvenile spondyloarthritis. These patients, with less response to colchicine, should be diagnosed earlier and treated as for jSpA.

Published
2018

3. A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency

Author

Caroline Galeotti, Maryam Piram, Sandra Berody, and Isabelle Koné-Paut

Subjects
Adult, Male, medicine.medical_specialty, Pediatrics, Adolescent, DNA Mutational Analysis, Disease, Inflammatory bowel disease, Diagnosis, Differential, Young Adult, Rheumatology, Surveys and Questionnaires, medicine, Humans, Child, Referral and Consultation, Immunodeficiency, Retrospective Studies, Mevalonate kinase deficiency, business.industry, Hyper-IgD syndrome, Immunoglobulin D, medicine.disease, Connective tissue disease, Pharyngitis, Surgery, Phosphotransferases (Alcohol Group Acceptor), Mutation, Female, Mevalonate Kinase Deficiency, medicine.symptom, business, Rare disease
Abstract

Mevalonate kinase deficiency (MKD) is an autosomic recessive auto-inflammatory disease caused by mutations of the MVK gene. MKD being a very rare disease, numerous misdiagnoses and medical referrals may precede the right diagnosis, amplifying the burden of the disease. Objectives To evaluate the patient's medical referrals between the first symptom and the diagnosis of MKD and the diagnosis delay. Methods A questionnaire was sent to French paediatric and adult rheumatologists to retrospectively collect information from genetically confirmed patients with MKD regarding the first symptoms of the disease, the different diagnoses made previously, the treatments received, and the disease burden evaluated mainly by the number of hospitalizations. Results Thirteen patients were analyzed. The mean age at onset was 9.5 months (birth to 36 months). The average diagnosis delay was 7.1 years. Eleven of them were hospitalized at least 5 times before the establishment of the diagnosis. A wide variety of diseases had been suspected: systemic juvenile idiopathic arthritis, periodic fever aphtous stomatitis pharyngitis adenitis syndrome, other hereditary recurrent fever, vasculitis, connective tissue disease, inflammatory bowel disease, gastritis, infections and immunodeficiency. Before the right diagnosis, 9 patients received corticosteroids and 6 patients received non-steroidal-anti-inflammatory drugs. Half patients had received repeated antibiotics, one third had received intravenous immunoglobulin, and the others were treated with immunosuppressive drugs or hydroxychloroquine. Conclusions MKD is a serious disease still difficult to treat, however earlier accurate medical referral and care, by increasing physicians’ awareness, is critical to improve both the disease course and quality of life.

Published
2015

4. Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus

Author

François Maurier, Behrouz Kassai, Nicole Fabien, Hélène Lefebvre, Aurélia Carbasse, Maryam Piram, Irène Lemelle, Pauline Soulas-Sprauel, Bruno Ranchin, Hugues Flodrops, Eric Hachulla, Aurélia Lanteri, Brigitte Bader-Meunier, Alexandre Belot, Ulrich Meinzer, Isabelle Rouvet, Stéphane Burtey, Yanick J. Crow, Charlotte Samaille, Héloïse Reumaux, Christophe Malcus, Olivia Weill, Tiphanie Ginhoux, Frédéric Rieux-Laucat, Caroline Galeotti, V. Despert, Anne Pagnier, Isabelle Koné-Paut, Sandrine Morell Dubois, Stéphane Decramer, Service de Pédiatrie - Néphrologie, Médecine interne, Hypertension, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service d'immunologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Evaluation et modélisation des effets thérapeutiques, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), EPICIME-CIC 1407 de Lyon, Inserm, Service de Pharmacologie Clinique, hospices civils de Lyon, Centre de Biotechnologie cellulaire, Hospices Civils de Lyon (HCL), Academic Unit of Medical Genetic, University of Manchester [Manchester], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Immunologie et chimie thérapeutiques (ICT), Cancéropôle du Grand Est-Centre National de la Recherche Scientifique (CNRS), Centre de Référence des Maladies AutoInflammatoires (CeRéMAI), Centre Hospitalier de Versailles André Mignot (CHV), Unité Néphrologie Pédiatrique [CHRU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Claude Huriez [Lille], CHU Lille, Centre de néphrologie et transplantation rénale [Hôpital de la Conception - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Service de médecine interne [hôpitaux privés de Metz], Hôpitaux Privés de Metz (HPMetz), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de Pédiatrie [Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service Pédiatrique [Rennes], CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Service de Néphrologie Rhumatologie Dermatologie, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-HCL Groupement Hospitalier Est-Centre de référence Maladies Rénales Rares, Service de médecine interne [Lille], Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Department of Pathology, Hôpital Femme-Mère-Enfant, Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases, Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Toulouse [Toulouse]-Hôpital des Enfants, CHU Toulouse [Toulouse], Centre International de Recherche en Infectiologie - UMR (CIRI), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier de Versailles (CHV), Hôpital Claude Huriez, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION ), HCL Groupement Hospitalier Est-Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-Centre de référence Maladies Rénales Rares, and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP]

Subjects
0301 basic medicine, Male, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, Autoimmunity, Disease, medicine.disease_cause, Pediatrics, Severity of Illness Index, Cohort Studies, 0302 clinical medicine, immune system diseases, Epidemiology, Lupus Erythematosus, Systemic, Monogenic lupus, Age of Onset, skin and connective tissue diseases, Child, Systemic lupus erythematosus, Incidence, Age Factors, Phenotype, 3. Good health, Child, Preschool, Cohort, Disease Progression, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, medicine.medical_specialty, Adolescent, Risk Assessment, 03 medical and health sciences, Sex Factors, Rheumatology, Internal medicine, medicine, Genetics, Humans, Genetic Predisposition to Disease, Retrospective Studies, business.industry, medicine.disease, 030104 developmental biology, Disease Presentation, Immunology, business, Anti-SSA/Ro autoantibodies, Follow-Up Studies
Abstract

Objective Studies of early-onset systemic lupus erythematosus (SLE) have identified monogenic forms of the disease. The primary objective of this study was to compare the clinical and laboratory features of the first patients included in the GENIAL/LUMUGENE cohort to those reported in previous publications. The secondary objective was to determine whether subgroups with a distinctive pattern of clinical and biological features are seen in predominantly genetic forms of SLE. Methods GENIAL/LUMUGENE is a French nationwide study of the clinical, immunological, and genetic features of juvenile-onset SLE (clinicaltrials.gov # NCT01992666 ). Clinical and laboratory data from the first 64 patients younger than 18 years who were included in the first part of the study were collected retrospectively. Predefined criteria were used to divide the patients into three subgroups: syndromic SLE ( n = 10) and familial SLE ( n = 12) – both presumed to have a strong genetic component – and other forms of early-onset SLE ( n = 42). Results The predefined criteria for identifying subgroups based on knowledge of the clinical and epidemiological features of monogenic SLE showed a significantly younger age at onset in syndromic SLE ( P Conclusions In this study, clinical and epidemiological data alone failed to identify a specific patient subgroup characterized by the same disease presentation or progression. This result may be related to the small sample size or indicate marked heterogeneity of juvenile-onset SLE. Genetic studies using new sequencing techniques in these patients might identify genetic factors responsible for marked phenotypic variability.

Published
2016

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