Amyloid Goiter Due to Familial Mediterranean Fever in a Patient with Byler Syndrome: A Case Report

Familial Mediterranean Fever (FMF) is an autosomal recessive inherited disease characterized by recurrent episodes of fever, peritonitis, sinovitis, pleuritis, and rarely pericarditis and meningitis (1). It is common in ethnic groups originating from around the Mediterranean Sea. The incidence of FMF and the frequency of FMF-associated amyloidosis are quite high in Turkey (1, 2). The diagnosis of FMF is based on typical clinical findings supported by family history, laboratory findings, and identification of genetic mutations. Regular colchicine treatment reduces the frequency and/or severity of the inflammatory episodes and prevents the development of amyloidosis (1). Congenital Byler Syndrome (progressive familial intrahepatic cholestasis) is another autosomal recessive inherited disease presenting during infancy or childhood, characterized by the defective secretion of bile acids leading to cholestatic progressive liver failure. Ursodeoxycholic acid (UDCA) and partial external biliary diversion may be palliative treatment modalities, whereas liver transplantation is curative (3). Clinically apparent amyloid goiter rarely develops due to secondary amyloidosis associated with inflammatory diseases. Amyloid deposits in the thyroid gland were first reported by von Rokitansky in 1855, and enlargement of thyroid caused by amyloid accumulation was first described by Beckman in 1858 and termed “amyloid goiter” by Eiselberg in 1904 (4). We aim to present a rare case of a patient with two inherited diseases, Byler Syndrome and FMF, who had received liver and kidney transplantations, and then developed a rapidly growing large amyloid goiter related to secondary amyloidosis of FMF.