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

Yıl 2014, Cilt: 31 Sayı: 3, 261 - 263, 01.07.2014

Özlem Ciğerli Hülya Parıldar Aslı Doğruk Ünal Özlem Tarçın Ebru Demiralay

Öz

Background: 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.
Case Report: 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.
Conclusion: When goiter was detected in cases with history ofsystemic
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.

Anahtar Kelimeler

Amyloid goiter, Byler disease, colchicine therapy, Familial Mediterranean Fever

Kaynakça

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