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

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 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

Vitamin D deficiency is related to thyroid antibodies in autoimmune thyroiditis

Introduction: It has been known that vitamin D has some immunomodulatory effects and in autoimmune thyroid diseases, vitamin D deficiency was more prevalent. In this study, our aim was to investigate the relationship between thyroid autoantibodies and vitamin D. Material and methods: Group 1 and 2 consisted of 254 and 27 newly diagnosed Hashimoto's thyroiditis (HT) and Graves' disease (GD) cases, respectively; age-matched 124 healthy subjects were enrolled as controls (group 3). All subjects (n = 405) were evaluated for 25OHD and thyroid autoantibody [anti-thyroid peroxidase (anti-TPO) and anti-thyroglobulin (anti-tg)] levels. Results: Group 2 and group 1 patients had lower 25OHD levels than group 3 subjects 14.9 +/- 8.6 ng/ml, 19.4 +/- 10.1 ng/ml and 22.5 +/- 15.4 ng/ml, respectively (p < 0.001). Serum 25OHD levels inversely correlated with anti-tg (r = -0.136, p = 0.025), anti-TPO (r = -0.176, p = 0.003) and parathormone (PTH) (r = -0.240, p < 0.001). Group 2 patients had higher anti-tg and anti-TPO levels than group 1 and 3 (p < 0.001). Conclusions: In this study, we found that patients with autoimmune thyroid disease (AITD) present with lower vitamin D levels and GD patients have higher prevalence. Since we found an inverse correlation between vitamin D levels and thyroid antibody levels, we may suggest that vitamin D deficiency is one of the potential factors in pathogenesis of autoimmune thyroid disorder