Pulmonary Hypertension and Familial Mediterranean Fever: A Previously Unrecognized Association

Abstract

Familial Mediterranean fever is an autosomal recessive inherited disorder characterized by recurrent episodes of fever accompanied by inflammation of the peritoneum, pleura, synovial membranes, and skin. The disorder predominantly affects persons of Mediterranean origin. The most serious complication of the disease is amyloidosis, which is the cause of death in a substantial proportion of adult patients with the disorder. Only one previous report has described pulmonary hypertension in a patient with systemic amyloidosis associated with multiple myeloma. Herein we describe the first known occurrence of pulmonary hypertension due to pulmonary amyloidosis in a 48-year-old woman with familial Mediterranean fever. Postmortem examination showed extensive deposits of amyloid in the pulmonary vessels, alveolar capillary walls, and myocardium, which explained the hypoxia, hypotension, and terminal cardiac arrhythmias that were the immediate cause of death in this patient.