Abstract
BackgroundTransthyretin 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 study was to explore the prevalence and distribution of gastrointestinal manifestations in transthyretin amyloidosis and to evaluate their impact on the patients’ nutritional status and health-related quality of life (HRQoL).MethodsThe Transthyretin Amyloidosis Outcomes Survey (THAOS) is the first global, multicenter, longitudinal, observational survey that collects data on patients with transthyretin amyloidosis and the registry is sponsored by Pfizer Inc. This study presents baseline data from patients enrolled in THAOS as of June 2013. The modified body mass index (mBMI), in which BMI is multiplied with serum albumin, was used to assess the nutritional status and the EQ-5D Index was used to assess HRQoL.ResultsData from 1579 patients with hereditary transthyretin amyloidosis and 160 patients with wild-type transthyretin amyloidosis were analyzed. Sixty-three percent of those with the hereditary form and 15% of those with the wild-type form reported gastrointestinal symptoms at enrollment. Unintentional weight loss and early satiety were the most frequent symptoms, reported by 32% and 26% of those with transthyretin gene mutations, respectively. Early-onset patients (<50 years) reported gastrointestinal complaints more frequently than those with a late onset (p < 0.001) and gastrointestinal symptoms were more common in patients with the V30M mutation than in those with other mutations (p < 0.001). For patients with predominantly cardiac complications, the prevalence of gastrointestinal manifestations was not evidently higher than that expected in the general population. Both upper and lower gastrointestinal symptoms were significant negative predictors of mBMI and the EQ-5D Index Score (p < 0.001 for all).ConclusionsGastrointestinal symptoms were common in patients with hereditary transthyretin amyloidosis and had a significant negative impact on their nutritional status and HRQoL. However, patients with wild-type transthyretin amyloidosis or transthyretin mutations associated with predominantly cardiac complications did not show an increased prevalence of gastrointestinal disturbances.
Highlights
Transthyretin amyloidosis is a systemic disorder caused by amyloid deposits formed by misfolded transthyretin monomers
Transthyretin amyloid (ATTR) amyloidosis is a systemic disorder with two main forms; hereditary and wild-type ATTR amyloidosis
The hereditary form is caused by transthyretin (TTR) gene mutations and is sometimes referred to as familial amyloid polyneuropathy (FAP) or familial amyloid cardiomyopathy (FAC)
Summary
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; gastrointestinal complications are common in the hereditary form. Transthyretin amyloid (ATTR) amyloidosis is a systemic disorder with two main forms; hereditary and wild-type (wt) ATTR amyloidosis. The hereditary form is caused by transthyretin (TTR) gene mutations and is sometimes referred to as familial amyloid polyneuropathy (FAP) or familial amyloid cardiomyopathy (FAC). More than 100 different TTR mutations have been observed, the V30M (Valine substituted for Methionine at position 30) mutation is the most common form in endemic areas [1,2]. The V122I mutation is probably the most common variant worldwide with a prevalence of about 4% in African-Americans [3]
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