National Protocol for Diagnosis and Care of Familial Mediterranean 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

Summary:

Familial Mediterranean Fever is the world's most common monogenic autoinflammatory disease. 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 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 renal failure. Treatment is based on colchicine, which helps prevent relapses and the onset of renal amyloidosis.

This work presents national recommendations for the diagnosis, management and follow-up of Familial Mediterranean Fever in France, where we estimate there are between 5,000 and 10,000 patients with the disease at all stages of life. 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 disease treatment, particularly in cases of suspected colchicine resistance - a very rare situation that should remain a situation of elimination, particularly after verification of colchicine compliance. Two special situations are also addressed in these recommendations: renal failure and pregnancy.

​© 2023 Publié par Elsevier Masson SAS au nom de Société Nationale Franc¸ aise de Médecine Interne (SNFMI).

French recommandation for the diagnostic and care of FMF Rev Med int.pdf

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Malignant Peritoneal Mesothelioma Complicating Familial Mediterranean Fever on 18F-FDG PET/CT

Antoine Fayand, MD,* Khaldoun Kerrou, MD,† Dominique Wendum, MD, PhD,‡

Gilles Grateau, MD, PhD,* and Sophie Georgin-Lavialle, MD, PhD*

Abstract:

A 77-year-old man with a personal history of Familial Mediterranean Fever presented with a slowly enlarging tumefaction of the left abdominal wall and persistent inflammatory syndrome despite good adherence to colchicine. 18F-FDG PET/CT showed a hypermetabolic muscular mass of the abdominal wall along with other hypermetabolic lesions including a peritoneal mass and several subcutaneous soft tissue nodules.

CT-guided needle biopsy led to the diagnosis of a muscular localization of a malignant peritoneal mesothelioma, which is an extremely rare complication of familial Mediterranean fever. Six courses of chemotherapy with carboplatin and pemetrexed allowed an almost complete response.

Key Words: malignant peritoneal mesothelioma, familial Mediterranean fever, autoinflammatory disorders, 18F-FDG PET/CT.