Possible gastrointestinal tract involvement in hereditary transthyretin amyloidosis identified by echnitium-99m pyrophosphate scan.

Abstract

Transthyretin cardiac amyloidosis (ATTR-CA) can be identified through technetium-99m pyrophosphate (Tc-99m PYP) scintigraphy. Gastrointestinal involvement in systemic transthyretin amyloidosis (ATTR-GI) is typically identified through the presence of gastrointestinal symptoms or by screening via endoscopy and/or rectal biopsy. Currently, there is no noninvasive imaging modality for identifying gastrointestinal amyloidosis. In this study, we present a case of a 20-year-old Chinese woman with transthyretin amyloidosis (ATTR) and Phe64Ser mutation. The patient presented with persistent nausea and vomiting, diarrhea and constipation, and poor appetite for 2 years. Tc-99m PYP imaging revealed possible gastrointestinal tract images that coincided with the patient's gastrointestinal symptoms, suggesting the usefulness of Tc-99m PYP scintigraphy as a diagnostic tool for identifying ATTR-GI.