Amyloid goiter due to familial mediterranean Fever in a patient with byler syndrome: a case report

• Published in: Balkan medical journal Vol. 31; no. 3; pp. 261 - 263
• Main Authors: Ciğerli, Ozlem, Unal, Aslı Doğruk, Parıldar, Hülya, Demiralay, Ebru, Tarçın, Ozlem
• Format: Journal Article
• Language: English
• Published: Turkey AVES 01-09-2014; Galenos Publishing House
• Subjects: Amyloid goiter; Byler disease; Case Report; colchicine therapy; Familial Mediterranean Fever; colchicine therapy; Byler disease; Amyloid goiter; Familial Mediterranean Fever
• ISSN: 2146-3123; 2146-3131
• DOI: 10.5152/balkanmedj.2014.13111

Familial Mediterranean Fever (FMF), also inherited with autosomal recessive trait, is characterized by recurrent episodes of fever, arthritis, and serositis. Congenital Byler Syndrome (Progressive Familial Intrahepatic Cholestasis) inherited with autosomal recessive trait and characterized by defective secretion of bile acids. FMF associated Amyloid A deposition occurs in many tissues and organs, but amyloid goiter is a rare entity that leads to enlargement and dysfunction of the thyroid.
We present a rare case of 24 year old male patient who had liver and kidney transplantation due to Byler Syndrome and secondary amyloidosis related to FMF, diagnosed as rapidly growing large amyloid goiter. Deposits of extracellular amyloid and dense adipose metaplasia diagnostic for amyloid goiter are determined upon histopathological examination of thyroidectomy material.
When goiter was detected in cases with history of systemic amyloidosis and rapidly growing goitre, amyloid goiter should be remembered at first. This case is unique since two autosomal genetic disorders are together in the same patient and important as it emphasizes the consequences of consanguineous marriage, early diagnosis and treatment compliance of FMF and the awareness of amyloid goiter in patients followed by primary care physicians and healthcare professionals.