Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis: a Single-Centre Experience

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Treatment of gastrointestinal complication in transthyretin amyloidosis. A single centre’s experience

Background Gastrointestinal complications have a substantial impact on ATTR amyloidosis patients’ survival and quality of life. The disturbances are generally attributed to motility disturbances caused by autonomic denervation, but the pathogenesis is poorly defined. The most common symptoms are those of early satiety, nausea and vomiting from the upper gastrointestinal (GI) tract, and constipa...

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[Familial approach in hereditary transthyretin cardiac amyloidosis].

Cardiac amyloidosis is a disease of complex diagnosis and treatment. Some subtypes of cardiac amyloidosis are inherited. Among these, the most common variant is caused by mutations in the transthyretin gene. Correct identification of amyloidosis produced by a genetic defect is of great importance because it modifies the diagnostic and therapeutic approach in patients and their families. We desc...

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Hereditary Transthyretin Amyloidosis in Eight Chinese Families

BACKGROUND Mutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. To date, more and more mutations in the TTR gene have been reported. Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family. The purpose of this study was to find out t...

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THAOS: Gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease

BACKGROUND Transthyretin amyloidosis is a systemic disorder caused by amyloid deposits formed by misfolded transthyretin monomers. Two main forms exist: hereditary and wild-type transthyretin amyloidosis, the former associated with transthyretin gene mutations. There are several disease manifestations; however, gastrointestinal complications are common in the hereditary form. The aim of this st...

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ژورنال

عنوان ژورنال: Journal of Gastrointestinal and Liver Diseases

سال: 2020

ISSN: 1842-1121,1841-8724

DOI: 10.15403/jgld-2474