Use of the Auto-inflammatory Disease Activity Index to monitor disease activity in patients with colchicine-resistant Familial Mediterranean Fever, Mevalonate Kinase Deficiency, and TRAPS treated with canakinumab

To evaluate the feasibility of the autoinflammatory disease activity index (AIDAI) as a tool to assess disease activity in patients with hereditary recurrent fever syndromes (HRFs) treated with canakinumab

Increase in pediatric recurrent fever evaluations during the first year of the COVID-19 pandemic in North America

The impact of the COVID-19 pandemic on new diagnoses of recurrent fevers and autoinflammatory diseases is largely unknown. The Childhood Arthritis and Rheumatology Research Alliance (CARRA) PFAPA/AID Working Group aimed to investigate the impact of the COVID-19 pandemic on the number of pediatric patients evaluated for recurrent fevers and autoinflammatory diseases in North America. The absolute number of new outpatient visits and the proportion of these visits attributed to recurrent fever diagnoses during the pre-pandemic period (1 March 2019–29 February 2020) and the first year of the COVID-19 pandemic (1 March 2020–28 February 2021) were examined. Data were collected from 27 sites in the United States and Canada. Our results showed an increase in the absolute number of new visits for recurrent fever evaluations in 21 of 27 sites during the COVID-19 pandemic compared to the pre-pandemic period. The increase was observed across different geographic regions in North America. Additionally, the proportion of new visits to these centers for recurrent fever in relation to all new patient evaluations was significantly higher during the first year of the pandemic, increasing from 7.8% before the pandemic to 10.9% during the pandemic year (p < 0.001). Our findings showed that the first year of the COVID-19 pandemic was associated with a higher number of evaluations by pediatric subspecialists for recurrent fevers. Further research is needed to understand the reasons behind these findings and to explore non-infectious triggers for recurrent fevers in children

Epidemiology of IgA Vasculitis : incidence, etiology

Le purpura rhumatoïde, récemment renommé vascularite à IgA (IgAV) est, en Occident, la vascularite systémique la plus fréquente de l’enfant. Cette vascularite leucocytoclasique IgA-médiée des petits vaisseaux touche principalement la peau, les articulations, le tube digestif et les reins. L’évolution est le plus souvent favorable mais certains patients peuvent développer une pathologie rénale chronique. L’étiologie de l’IgAV étant inconnue, les études épidémiologiques sont importantes afin de générer des hypothèses étiologiques. La première partie de cette thèse consacrée à l’épidémiologie de l’IgAV, consiste en une revue de la littérature résumant l’ensemble des connaissances actuelles d’épidémiologie descriptive de l’IgAV ainsi que les facteurs de risque génétiques ou environnementaux rapportés. La seconde partie est une étude prospective sur 3 ans décrivant les caractéristiques épidémiologiques des cas incidents d’IgAV survenus chez les enfants habitant le département du Val de Marne, localisé au sud-est de Paris. Grâce à une analyse capture–recapture à 4 sources, nous avons estimé l’incidence annuelle de l’IgAV à 30/100 000 enfants < 15 ans. La faible variation de l’incidence de l’IgAV dans le temps et dans l’espace et l’existence d’une saisonnalité de la maladie suggèrent un facteur déclenchant infectieux ubiquitaire et non émergent. La troisième partie de cette thèse, s’intéresse à la question du rôle de la vaccination dans le déclenchement de l’IgAV. En l’absence d’études pharmaco-épidémiologiques robustes, nous avons réalisé une étude en case-crossover, qui est une variante d’une étude cas–témoin traditionnelle afin d’étudier l’effet de la vaccination sur le risque à court terme d’IgAV. Nos résultats indiquent que les vaccins communément réalisés chez l’enfant n’augmentent pas significativement le risque d’IgAV dans les 3 mois suivant la vaccination. Les résultats de cette thèse améliorent nos connaissances de l’épidémiologie de l’IgAV et suggèrent que les infections, mais pas les vaccins, jouent un rôle dans l’étiologie de la maladie. D’autres études épidémiologiques sont toutefois nécessaires, en particulier dans les populations non étudiées et multi-ethniques, afin de mieux cerner le rôle des facteurs génétiques dans la survenue de la maladie.Henoch-Schönlein purpura, recently renamed immunoglobulin A vasculitis (IgAV), is the most common systemic vasculitis in childhood in Western countries. The sites predominantly affected by this IgA-mediated, leukocytoclastic, small-vessel vasculitis are the skin, joints, gastrointestinal tract and kidneys. IgAV is often self-limiting, although chronic kidney disease can develop in some patients. Because the cause of IgAV is unknown, epidemiological studies are important to provide clues to understanding its etiology. The first part of this thesis, devoted to the epidemiology of IgAV, is a literature review summarizing the currently available knowledge on descriptive epidemiological aspects of IgAV and environmental and genetic risk determinants. The second part is a prospective survey describing the epidemiological characteristics of IgAV in Val de Marne, located in the southeast suburbs of Paris, France. With a 3-year study and 4-source capture–recapture analysis, we estimated the annual incidence of IgAV at 30/100,000 children (age ≤ 15 years). The few secular and geospatial variations in IgAV incidence and the observation of a seasonal pattern in IgAV incidence lend support to a role for a ubiquitous and communicable infectious trigger. The third part of the thesis addresses the concern suggested mainly by case reports of vaccination as a potential trigger of IgAV. In light of the lack of robust pharmacoepidemiological studies, we performed a case–crossover study, a variant of a traditional case–control study, to investigate the effect of vaccination on short-term risk of IgAV. The results indicated that vaccines commonly administered to children do not significantly increase the risk of IgAV in the 3 months after vaccine exposure. The results of this thesis enhance our knowledge of IgAV epidemiology and suggest that infections but not vaccines may play a role in the etiology of the disease. More epidemiological investigation is required, particularly in understudied areas and multiethnic populations, to gain insight in the burden of genetics in IgAV etiology

Angiomes plans de la face (risque convulsif)

TOURS-BU Médecine (372612103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases

International audiencePathogenic variants in the PSTPIP1 gene cause pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. They were also identified in a broad spectrum of phenotypes. As their interpretation is sometimes challenging, we discuss the genotype-phenotype association in PSTPIP1-associated autoinflammatory diseases (PAIDs) in light of a recent consensus classification of variant pathogenicity. Only 7 of 39 (18%) of the PSTPIP1 variants found in all reported cases and our national reference center (161 patients [114 probands]) were pathogenic. They were clearly associated with PAPA and PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome (PAMI), reflecting a variable clinical expression of PAIDs

Health-related quality of life in children with PFAPA syndrome

Abstract Background Conventionally, PFAPA syndrome is considered as a benign disease compared to other recurrent fevers because it completely passes before adulthood. However, in our clinical practice, fever episodes have a huge impact on daily activities. Methods Observational cohort study using the Pediatric Quality of Life Inventory (PedsQL™ 4.0) Generic Core and Fatigue Scales. PedsQL™ uses a modular approach to measure the HRQOL in children with acute and chronic health conditions. We used pediatric FMF patients as the control group. Results We included 33 children with PFAPA and compared them to 27 FMF patients matched for age: preschool-age children (2 to 7 years) and school-age children and youths (8 to18 years). PedsQL™ self-reported scores of children with PFAPA were systematically lower than those of FMF peers for general quality of life and physical and psychosocial functioning (significant only in the preschool-age group). PedsQL™ self-reported fatigue scores of children with PFAPA were significantly lower than those of FMF peers for both preschoolers and school-age children and youths. Parent proxy-reports were not significantly different, even though scores were systematically lower for the parents of PFAPA children. Conclusion Our study demonstrates, for the first time, that the wellbeing of PFAPA children is poor, with a major impact on psychosocial functioning and increased fatigue. The quality of life of PFAPA children appears to be even lower than that of FMF patients, for whom a lower than normal HRQOL has already been demonstrated

Quality of life in monogenic autoinflammatory diseases. A review

International audienc

PW02-012 - First clinical description of an infant with DITRA

International audienc

PW02-012 - First clinical description of an infant with DITRA

International audienc

The expanding spectrum of rare monogenic autoinflammatory diseases.

International audience: Monogenic autoinflammatory diseases are a group of hereditary disorders characterized by a clinical and biological inflammatory syndrome in which there is little or no evidence of autoimmunity. The discovery of the first causative gene in 1997 was rapidly followed by the identification of many others from the same group. The mutated proteins can be directly or indirectly involved in the regulation of inflammation. The available literature includes numerous reviews, which address the principle diseases, but we wanted to focus on the most recent rare syndromes. A comprehensive review is thus provided, including taxonomic, genetic, and epidemiological data, along with characteristics defining positive and differential diagnoses and treatment. We believe that this update will assist physicians in correctly naming their patient's illness. This is an essential step for the effective and targeted management of an orphan disease