A Rare and Overlooked Cause of Chronic Diarrhea: Hereditary Transthyretin Amyloidosis
Zülal İstemihan1
1Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye
2Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye
3Department of Pathology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye
2Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye
3Department of Pathology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye
Journal of Enterocolitis 2025; 4(3): 64-67 DOI: 10.14744/Jenterocolitis.2025.25974
Abstract
Hereditary transthyretin amyloidosis is a rare, rapidly progressive, and fatal disease caused by pathogenic variants in the transthyretin gene. It is inherited in an autosomal dominant manner. The disease is characterized by the accumulation of amyloid fibrils in various organs, particularly the peripheral nerves, heart, kidneys, eyes, and gastrointestinal tract. We present a rare case of transthyretin amyloidosis manifested by chronic diarrhea.
Keywords: Amyloidosis, diarrhea, hereditary
