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Updated: Jul 31, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Gastroparesis: an under-recognised manifestation of systemic amyloidosis
Khaled M Abdullah1, Anas Alsuraimi2, Suaka Kagbo-Kue3
1Internal Medicine, University of California San Francisco, Fresno, California, USA Kmabdullah@ucsf.edu.
Abstract:
Gastrointestinal (GI) amyloidosis can be acquired or genetic and is commonly caused by chronic inflammatory illnesses (AA amyloidosis), haematological malignancies (AL amyloidosis) and end-stage renal disease (beta-2 microglobulin amyloidosis). The accumulation of these aberrant proteins disrupts the structures and functions of many organs; the least common of which is the GI tract. GI presentations depend on the type, location and amount of amyloid deposition. Symptoms can range from nausea and vomiting to fatal GI bleeds. Pathological examination of the involved tissue with characteristic green birefringence under polarised light is used to confirm the diagnosis. Patients should be considered for further evaluation to rule out additional organ involvement, notably cardiac and renal. We present a patient with amyloidosis-induced gastroparesis, an under-recognised presentation of systemic amyloidosis in the gastroenterology system.
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