Abstract :
Familial Mediterranean fever (FMF) is a hereditary, autoinflammatory disease that causes recurrent fever, arthritis, and serositis. The diagnosis of FMF is based on the presentation of typical clinical symptoms and the Mediterranean fever gene (MEFV) test. However, the challenge lies in diagnosing atypical cases. We describe the case of an 18-year-old male patient with heterozygous FMF whose dominant clinical features were recurrent myalgia and muscle stiffness with or without fever. He had intermittent attacks of muscle aches and muscle stiffness with and sometimes without fever for which he was on regular non-steroidal antinflammatory medications. His acute inflammatory markers and serum amyloid A was found high and The diagnosis heterozygous FMF was done after MEFV gene analysis revealed heterozygous MEFV mutation. Recurrent, prolonged, and unresolved muscle aches that was refractory to nonsteroidal anti-inflammatory drugs.so the diagnosis of heterozygous FMF was done and started on colchicine 1mg/day. The muscle aches and muscle stiffness improved dramatically after starting colchicine therapy 1mg/day and the inflammatory markers returned to normal levels. We present an adolescent who is a case of heterozygous FMF presented with history of recurrent myalgia and muscle stiffness and back pain with and without fever since childhood. The patient was treated with colchicine. Based on this case, we suggest that FMF should be kept in mind in the differential diagnosis of patients with myalgia, back aches, muscle stiffness with or without fever.
