Amyloid Goiter as the Initial Manifestation of Systemic Amyloidosis due to Familial Mediterranean Fever with Homozygous MEFV Mutation

Abstract

We describe a case of amyloid goiter revealing a systemic amyloidosis secondary to familial Mediterranean fever (FMF) with homozygous MEFV mutation, and we review the literature. A 45-year-old euthyroid Sephardic man, known to suffer from FMF, developed a goiter with cold nodule, after which a subtotal 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 levothyroxine were prescribed. Eight years later, the patient presented with a rapidly growing neck enlargement. He reported that he had discontinued colchicine 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 colchicine, the onset of compressive symptoms led to the completion of the total 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 knowledge, this is the first case of FMF in which an amyloid goiter preceded the development of secondary systemic amyloidosis. The cessation of colchicine therapy may have played a role in local relapse and the secondary spread of amyloid deposits.

Thyroid Hormone Substitution Therapy Rapidly Enhances Left-Ventricular Diastolic Function in Hypothyroid Patients

“…In some studies, LV dimensions have been shown to increase during thyroxine treatment [10, 12], while in others no change has been observed [11], as was the case in the present study. Blood volume is decreased in hypothyroidism [6, 7]and thyroxine substitution corrects volume depletion; hence LV volumes may increase.…”

“…The few studies on hypothyroid patients in whom LV diastolic function has been assessed by pulsed Doppler echocardiography have yielded contradictory results. After thyroxine therapy Grossman et al [12]reported a decrease in E max and A max , but no change in E/A max , Kahaly et al [11]reported an increase in all indices, and Arem et al [10]no change in any of these. The study design was similar to ours only in Arem’s report.…”

“…To date there are very few reports on diastolic function assessed by pulsed Doppler echocardiography in hypothyroid patients, and the results have been controversial [10, 11, 12]. The aim of the present study was to evaluate the changes in LV diastolic function of patients with primary hypothyroidism after the start of thyroxine substitution therapy.…”

A Case of Amyloid Goiter Associated with Intrathyroid Parathyroid and Lymphoepithelial Cyst

“…However, the possibility that the case may be the first expression of systemic amyloidosis could not be excluded [2], and a progression is possible, requiring a long-term follow-up of the patient. Different causes of secondary amyloidosis associated with amyloid deposition in the thyroid gland have been reported such as familial Mediterranean fever [9][10][11][12], rheumatoid arthritis [13,14], psoriasiform arthritis, bronchiectasis [2,15], and ankylosing spondylitis [16]. The association with primary amyloidosis has been demonstrated by Siddiqui et al [17] and Villamil et al [18], while absence of definite etiology similar to that seen in our case has been reported by others [19].…”

Determination of IgG Subclasses and Avidity of Antithyroid Peroxidase Antibodies in Patients with Subclinical Hypothyroidism – A Comparison with Patients with Overt Hypothyroidism

“…Various studies describe cardiac alterations comprising structural modifications in the myocardium, diastolic dysfunction of the left ventricle and alterations in systolic function at rest and after exercise [7, 8, 9, 10, 11]. A number of groups report an improvement in cardiac manifestations of this condition, following L -thyroxine replacement [11].…”