Amyloid Goitre in Familial Mediterranean Fever: Report on Three Patients and Review of the Literature

Abstract

Familial Mediterranean fever (FMF) is a hereditary disease, the most threatening complication of which is systemic amyloidosis. The thyroid gland may be asymptomatically involved in most patients with systemic amyloidosis secondary to FMF. However, clinically detectable thyroid goitre is quite rare, and until now only nine cases of thyroid goitre secondary to amyloid deposition in FMF have been reported. Of 1,100 FMF patients regularly followed up at our centre, thyroid goitre due to the accumulation of amyloid substance could be detected in only three (0.27%). In this report, we summarise the clinical and laboratory features of these patients. All three patients were euthyroid. Total thyroidectomy was performed for compressive symptoms in one patient and for aesthetic purposes in the other two. In countries with a high prevalence of FMF, such as Turkey, secondary amyloidosis of the thyroid gland should be borne in mind in long-standing FMF patients.

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

“…Amyloid accumulation was demonstrated in the thyroid gland of 80% of patients with secondary amyloidosis in autopsy examination (4). Systemic amyloidosis was detected in 84 (7.6%) of 1100 FMF patients followed in a university clinic in Turkey; amyloid goiter was detected in only three (0.27%) of them (7).…”

Diffuse lipid ınfiltration and squamous metaplasia accompanying amyloid goiter: case report

“…Primer ve sekonder amiloidozisde %30-80 oranında mikroskobik düzeyde tiroid bezinde amiloid birikimi görülmektedir (5,6). Amiloid guatr tek tarafl ı veya olgumuzda olduğu gibi çift tarafl ı olabilir (7,8).…”

“…Altıparmak ve ark. 1100 FMF'li hastanın %7,6'sında sistemik sekonder amiloidoz ve %0.27'sinde amiloid guatr saptamışlardır (5). Olgumuzda FMF' e bağlı gelişen kronik böbrek yetmezliği ve amiloid guatr mevcut olduğu için sistemik amiloidozis düşündük.…”

“…Amiloid guatr, boyunda haft alar, aylar içinde hızlı büyüyen kitle olarak karşımıza çıkmaktadır (3,5). Tiroidin büyümesine bağlı olarak çevre dokulara bası sonucunda dispne, disfaji ve horlama gibi şikayetler görülebilir (7,9).…”

“…Amiloid guatr hastalarının çoğunda tiroid fonksiyon testleri normal olup, klinik olarak ötiroiddir. Bununla birlikte nadir olarak hipotirodizm veya hipertiroidizm olgularıda bildirilmiştir (5,9). Olgumuzda sT3, sT4 ve TSH düzeyleri normaldi.…”