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Inès ELHANI et al.
Oct 171 min read

French update on A20 haploinsufficiency (HA20) by Elhani et al. (2024)


First author: :ELHANI et al

Revue: La Revue de médecine interne



Abstract:

A20 Haploinsufficiency (HA20) is a monogenic autoinflammatory disease associated with an autosomal dominant mutation in the TNFAIP3 gene. It induces a defect in the inactivation of the pro-inflammatory NF-κB pathway. Less than 200 cases have been described worldwide. The clinical picture of the disease is essentially based on the association of recurrent fever and/or biologic inflammatory syndrome, aphtosis, often bipolar, and cutaneous folliculitis. However, the clinical spectrum of HA20 is very broad, including gastrointestinal (mainly colonic ulceration), articular, cutaneous, pericardial and lymph node involvement, as well as frequent association with organ-specific or non-specific autoimmune manifestations and/or autoantibodies, including antinuclear antibodies and anti-dsDNA. As a result, the diagnosis of a number of systemic or organic disorders, most notably Behçet's disease, Crohn's disease, and sometimes even systemic lupus, has been corrected to HA20 by molecular research for a heterozygous mutation with functional deficiency of TNFAIP3. Although the first signs of the disease often appear in the first years of life, the diagnosis is often made in adulthood and requires the involvement of both paediatric and adult physicians. Treatment for HA20 is not codified and relies on conventional or biological immunomodulators and immunosuppressants adapted to the patient's symptomatology. This review highlights the enormous diagnostic challenges in this autoinflammatory disease.

© 2023 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SA




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Philippe Mertz et al.
Oct 171 min read

French update on hyperinflammatory actinopathies by Mertz et al (2023)

First author: P. Mertz

Review: La Revue de médecine interne


Principaux intervenants dans la régulation de la dynamique du cytosquelette d’actine.
Fig1: Principaux intervenants dans la régulation de la dynamique du cytosquelette d’actine.

Abstract:

Autoinflammatory diseases (AIDs) are diseases resulting from an inappropriate activation of innate immunity in the absence of any infection. The field of monogenic AIDs is constantly expanding, with the discovery of new pathologies and pathophysiological mechanisms thanks to pangenomic sequencing. Actinopathies with autoinflammatory manifestations are a new emerging group of AIDs, linked to defects in the regulation of the actin cytoskeleton dynamics. These diseases most often begin in the neonatal period and combine to varying degrees a more or less severe primary immune deficiency, cytopenias (especially thrombocytopenia), auto-inflammatory manifestations (especially cutaneous and digestive), atopic and auto-immune manifestations. The diagnosis is to be evoked essentially in front of a cutaneous-digestive auto-inflammation picture of early onset, associated with a primary immune deficiency and thrombocytopenia or a tendency to bleed. Some of these diseases have specificities, including a risk of macrophagic activation syndrome or a tendency to atopy or lymphoproliferation. We propose here a review of the literature on these new diseases, with a proposal for a practical approach according to the main associated biological abnormalities and some clinical particularities. However, the diagnosis remains genetic, and several differential diagnoses must be considered. The pathophysiology of these diseases is not yet fully elucidated, and studies are needed to better clarify the inherent mechanisms that can guide the choice of therapies. In most cases, the severity of the picture indicates allogeneic marrow transplantation.

© 2023 Published by Elsevier Masson SAS on behalf of Société Nationale Française de Médecine Interne (SNFMI).



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Sophie GEORGIN LAVIALLE et al.
Oct 111 min read

French protocol for the diagnosis and management of familialMediterranean fever


S. Georgin-Laviallea,h,∗, L. Saveya,h, L. Cuissetc, G. Boursiere,h, J.-J. Boffab,h,M. Delplanquea,h, R. Bourguibaa,h, J.-B. Monfortd,h, I. Touitoue,h, G. Grateaua,h,I. Kone-Pautf,h, V. Hentgeng,h, Collaborators1


Protocole national de diagnostic et de soins de la fièvre Méditerranéenne familiale

Summary:


Familial Mediterranean fever is the most common monogenic auto-inflammatory disease in the world. It mainly affects people from the Mediterranean region. The mutated gene is MEFV, which codes for pyrin. Transmission is autosomal recessive. Patients present with recurrent attacks of fever since childhood, associated with abdominal and/or thoracic pain lasting an average of 2 to 3 days, and associated with a biological inflammatory syndrome. Other symptoms include arthralgia or arthritis of large joints such as the knees and ankles, myalgia of the lower limbs and pseudo-eryzipelas of the ankles. Its most severe complication is inflammatory amyloidosis, or AA amyloidosis, which can lead to kidney failure. Treatment is based on colchicine, which helps prevent relapses and the onset of renal amyloidosis. This paper proposes national recommendations for the diagnosis, management and follow-up of familial Mediterranean fever in France, where we estimate that there are between 5,000 and 10,000 patients with the disease at all ages. The diagnosis is suspected on the basis of clinical and anamnestic elements, and confirmed by genetic analysis. These recommendations also propose a "treat-to-target" approach to the treatment of the disease, particularly in cases of suspected resistance to colchicine, a very rare situation which must remain a priority.

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© 2023 Publié par Elsevier Masson SAS au nom de Société Nationale Française de Médecine Interne (SNFMI).




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