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

Year 2014, Volume: 31 Issue: 3, 261 - 263, 01.07.2014

Özlem Ciğerli Hülya Parıldar Aslı Doğruk Ünal Özlem Tarçın Ebru Demiralay

Abstract

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.

Keywords

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

References

• 1. Koné-Paut I, Hentgen V, Touitou I. Current data on familial Mediterranean fever. Joint Bone Spine 2011;78:111-4. [CrossRef]
• 2. Ben-Chetrit E, Touitou I. Familial Mediterranean Fever in the world. Arthritis Rheum 2009;63:1447-53. [CrossRef]
• 3. Jacquemin E. Progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol 2012;36(Suppl 1):S26-35. [CrossRef]
• 4. Villa F, Dionigi G, Tanda ML, Rovera F, Boni L. Amyloid goiter. Int J Surg 2008;6(Suppl 1):S16-18. [CrossRef]
• 5. Sevoyan MK, Sarkisian TF, Beglaryan AA, Shahsuvaryan GR, Armenian HK. Prevention of amyloidosis in familial Mediterranean fever with colchicine: A case-control study in Armenia. Med Princ Pract 2009;18:441-6. [CrossRef]
• 6. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 2005; 84:1-11. [CrossRef]
• 7. Altiparmak MR, Pamuk ON, Pamuk GE, Apaydin S, Ataman R, Serdengeçti K. Amyloid goitre in familial Mediterranean fever: Report on three patients and review of the literature. Clin Rheumatol 2002;21:497-500. [CrossRef]
• 8. Turhan İyidir Ö, Altay M, Konca Degertekin C, Altınova A, Karakoç A, Ayvaz G, et al. Diffuse amyloid deposition in thyroid gland:Acause for concern in familial Mediterranean fever. Amyloid 2012; 19: 161-2. [CrossRef]
• 9. Ori Y, Halpern M, Sadov R, Feinmesser R, Ramadan R, Korzets A. Familial Mediterranean fever, an amyloid thyroid goiter and an enlarged parathyroid gland. Isr Med Assoc J 2012;14:232-3.
• 10. Eren R, Sayar H, Çiralik H, Ezberci F. [Diffuse lipid infiltration and squamous metaplasia accompanying amyloid goiter: Case report]. Turk Patoloji Derg 2013;29:146-9.