Abstract
BackgroundAutonomic dysfunction is a hallmark feature of hereditary ATTR amyloidosis. The aim of this study was to summarize the characteristics and natural history of autonomic dysfunction in patients with hereditary ATTR amyloidosis.MethodsA systematic review of the natural history and clinical trials of patients with ATTR amyloidosis was performed. Alternative surrogate markers of autonomic function were analyzed to understand the prevalence and outcome of autonomic dysfunction.ResultsPatients with early-onset disease displayed autonomic dysfunction more distinctively than those with late-onset disease. The nutritional status and some autonomic items in the quality-of-life questionnaires were used to assess the indirect progression of autonomic dysfunction in most studies. Gastrointestinal symptoms and orthostatic hypotension were resent earlier than urogenital complications. Once symptoms were present, their evolution was equivalent to the progression of the motor and sensory neuropathy impairment.ConclusionThe development of autonomic dysfunction impacts morbidity, disease progression, and mortality in patients with hereditary ATTR amyloidosis.
Highlights
Hereditary ATTR amyloidosis is an autosomal dominant hereditary multisystemic disorder caused by the extracellular accumulation of abnormally misfolded transthyretin (TTR)
A literature search was performed using the terms “natural history,” “clinical outcomes,” “clinical trials,” “case studies,” and “case report,” and “ATTR amyloidosis,” “familial amyloid polyneuropathy,” “transthyretin,” “dysautonomia,” and “autonomic.” Most of the articles identifed with a combination of these terms were clinical series of cases describing specific mutations
We identified ten articles on clinical trials and clinical trial extensions that described the autonomic characteristics of the patient study population and ten review articles that focused on some aspects of autonomic function
Summary
Hereditary ATTR amyloidosis is an autosomal dominant hereditary multisystemic disorder caused by the extracellular accumulation of abnormally misfolded transthyretin (TTR). Usual manifestations include sensory–motor neuropathy, autonomic dysfunction, cardiac, Autonomic symptoms are key components of hereditary ATTR amyloidosis, are present in almost all mutations, and emerge at onset or very early afterwards; they contribute strongly to the burden of the disease [1–4]. These symptoms are often overlooked, as they can be hidden or interposed by more pronounced cardiovascular or GI manifestations (please refer to sections Clinical vignettes 1 and 2). The progression of hereditary ATTR amyloidosis to late-stage disease results in patients becoming wheelchair-dependent or bedridden, either due to severe motor impairment or end-stage cardiomyopathy. Conclusion The development of autonomic dysfunction impacts morbidity, disease progression, and mortality in patients with hereditary ATTR amyloidosis
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