MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages.

[familial mediterranean fever]

Inflammatory myopathy with abundant macrophages (IMAM ) has recently been proposed as a new clinical condition . Although IMAM shares certain similarities with other inflammatory myopathies , the mechanisms responsible for this condition remain unknown . Patients with familial Mediterranean fever (FMF ) and tumour necrosis factor receptor-associated periodic syndrome (TRAPS ) also often develop myalgia . We therefore investigated the polymorphisms or mutations of MEFV and TNFRSF 1 A genes in patients with IMAM to identify their potential role in this condition . We analysed the clinical features of nine patients with IMAM and sequenced exons of the MEFV and TNFRSF 1 A genes . The patients with IMAM had clinical symptoms such as myalgia , muscle weakness , erythema , fever and arthralgia . Although none of the patients were diagnosed with FMF or TRAPS , seven demonstrated MEFV polymorphisms (G 304 R , R 202 R , E 148 Q , E 148 Q-L 110 P and P 369 S-R 408 Q ), and one demonstrated a TNFRSF 1 A mutation (C 43 R ). These results suggest that MEFV gene polymorphisms and TNFRSF 1 A mutation are susceptibility and modifier genes in IMAM .

Diseases
Validation

Diseases presenting "muscle weakness" symptom

alexander disease

canavan disease

coats disease

cohen syndrome

cystinuria

familial mediterranean fever

focal myositis

inclusion body myositis

neuralgic amyotrophy

pyomyositis

severe combined immunodeficiency

systemic capillary leak syndrome

thoracic outlet syndrome

triple a syndrome

von hippel-lindau disease

This symptom has already been validated