Amyloid goiter as the initial manifestation of systemic amyloidosis due tofamilial Mediterranean fever with homozygous MEFV mutation

We describe a case of amyloid goiter revealing a systemic amyloidosis secon dary to familial Mediterranean fever (FMF) with homozygous MEFV mutation, a nd we review the literature. A 45-year-old euthyroid Sephardic man, known t o suffer from FMF, developed a goiter with cold nodule, after which a subto tal thyroidectomy was performed. Histologic evaluation revealed diffuse AA amyloid deposition without any associated thyroid neoplasia. At that time, no other organ was found to be affected by amyloidosis. Colchicine and levo thyroxine were prescribed. Eight years later, the patient presented with a rapidly growing neck enlargement. He reported that he had discontinued colc hicine therapy 2 years earlier. The serum thyrotropin (TSH) and calcitonin levels were normal. Renal, digestive, and salivary gland biopsies confirmed the presence of systemic AA amyloidosis. Despite the reintroduction of col chicine, the onset of compressive symptoms led to the completion of the tot al thyroidectomy. The histopathology again demonstrated amyloid deposition, and excluded a malignant neoplasm. Nine cases of amyloid goiter associated with FMF have been reported in the literature; none of them had an amyloid goiter as the first manifestation of systemic amyloidosis. To our knowledg e, this is the first case of FMF in which an amyloid goiter preceded the de velopment of secondary systemic amyloidosis. The cessation of colchicine th erapy may have played a role in local relapse and the secondary spread of a myloid deposits.