Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
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Autonomic dysfunction is common in transthyretin amyloidosis (ATTR amyloidosis), but its frequency, characteristics, and quality-of-life (QoL) impact are not well understood. ⋯ Autonomic dysfunction was more common and presented earlier in symptomatic ATTRv than ATTRwt amyloidosis and adversely affected QoL in ATTRv disease. These THAOS findings may aid clinicians in diagnosing and treating patients with ATTR amyloidosis. Trial registration: ClinicalTrials.gov: NCT00628745.
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Review
Neurological manifestations of hereditary transthyretin amyloidosis: a focus on diagnostic delays.
The recent availability of disease-modifying therapies for hereditary transthyretin amyloid (ATTRv) amyloidosis warrants urgency for earlier diagnosis and timely identification of active disease state among genetic carriers. ⋯ Our study found higher rates of polyneuropathy by examination than patient-reported symptoms, especially among those with V122I TTR amyloidosis, signalling asymptomatic polyneuropathy. Our findings suggest the need for routine neurological examinations and other testing for genetic carriers to achieve earlier identification of active disease state.
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Observational Study
Amyloidosis from the patient perspective: the French daily impact of amyloidosis study.
Amyloidosis is a complex group of rare conditions. For patients, amyloidosis is severely debilitating: physically and psychologically. Currently, data are lacking to evaluate the medical, economic, and social burden of systemic amyloidosis. ⋯ Systemic amyloidosis severely impacts daily life. The delay to confirmed amyloidosis diagnosis needs to be reduced. Early, effective treatment is required to optimise patient benefits.
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Cardiac amyloidosis (CA) is cardiomyopathy with a hypertrophic phenotype characterised by diffuse deposition of anomalous fibrillar proteins in the extracellular matrix. ⋯ evidence of extra left ventricle sites of amyloid deposition is a frequent finding in CA. In the context of hypertrophic phenocopies, an increased thickness of IAS, and/or CT and/or MAL should suggest a diagnosis of transthyretin CA.