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
Link to article: https://doi.org/10.1016/j.revmed.2023.10.441
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.
© 2023 Publié par Elsevier Masson SAS au nom de Société Nationale Française de Médecine Interne (SNFMI).
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