Cachexia as an unusual presentation of familial Mediterranean fever: A case report

Familial Mediterranean fever (FMF) is the most common autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent fever and polyserositis (e.g., peritonitis, pleuritis, and arthritis). However, diagnosing atypical cases remains challenging.

A 9-year-old girl had a history of progressive loss of appetite, weight loss, and myalgia over the preceding three months. She developed high-grade fever over the preceding three weeks, occasionally associated with abdominal pain. The girl is one of a triplet; neither of the other two sisters had similar symptoms. Family history was irrelevant. She presented with cachexia, generalized body aches, and fever without evident arthritis. She had splenomegaly and a markedly elevated erythrocyte sedimentation rate. After exclusion of rheumatological and malignant causes, FMF was suspected. Serum amyloid A was high. The patient received colchicine therapy. There was a significant improvement in her symptoms with normalization of acute-phase reactants. Polymerase chain reaction test for FMF gene mutation returned negative.

FMF can present with atypical symptoms. Detailed history and meticulous clinical evaluation were key clues suggesting the diagnosis.