A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium

JL De Bleecker, KG Claeys, S Delstanche… - Acta Neurologica …, 2023 - Springer
Introduction Hereditary transthyretin-mediated (hATTR) amyloidosis, a genetic disease
caused by mutations in the transthyretin gene, leads to progressive sensory and autonomic …

THAOS–The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis

T Coelho, MS Maurer, OB Suhr - Current medical research and …, 2013 - Taylor & Francis
Background: Transthyretin (TTR) amyloidosis is a rare, life-threatening, systemic, autosomal
dominant condition occurring in adults, with two main forms: hereditary (associated with TTR …

Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases

MW Cruz, H Schmidt, MF Botteman, JA Carter… - Amyloid, 2017 - Taylor & Francis
Background Transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) was first
identified in Portugal in 1952 [Citation 1]. In 1984, the first report of a causative mutation …

Seven years of selective genetic screening program and follow-up of asymptomatic carriers with hereditary transthyretin amyloidosis in Bulgaria

T Chamova, M Gospodinova, O Asenov… - Frontiers in …, 2022 - frontiersin.org
Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare, autosomal-dominant
(AD) multisystem disorder resulting from the extracellular deposition of amyloid fibrils formed …

Hereditary transthyretin‐related amyloidosis

J Finsterer, S Iglseder, J Wanschitz… - Acta Neurologica …, 2019 - Wiley Online Library
Hereditary transthyretin (TTR)‐related amyloidosis (ATTRm amyloidosis) is an endemic/non‐
endemic, autosomal‐dominant, early‐and late‐onset, rare, progressive disorder …

Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression

D Adams, V Algalarrondo, M Polydefkis… - Orphanet journal of rare …, 2021 - Springer
Background Hereditary transthyretin-mediated amyloidosis, also known as ATTRv
amyloidosis (v for variant), is a rare, autosomal dominant, fatal disease, in which systemic …

Diagnosis and treatment of hereditary transthyretin amyloidosis with polyneuropathy in the United States: Recommendations from a panel of experts

C Karam, ML Mauermann, A Gonzalez‐Duarte… - Muscle & …, 2024 - Wiley Online Library
Hereditary transthyretin (ATTRv; v for variant) amyloidosis is a rare, multisystem,
progressive, and fatal disease in which polyneuropathy is a cardinal manifestation. Due to a …

[PDF][PDF] A Physician's guide to Transthyretin Amyloidosis

T Coelho, BG Ericzon, R Falk, D Grogan… - Clarkston, MI …, 2008 - researchgate.net
Amyloidosis is a systemic disorder characterized by extra cellular deposition of a protein-
derived material, known as amyloid, in multiple organs. Amyloidosis occurs when native or …

Kidney involvement in hereditary transthyretin amyloidosis: a cohort study of 103 patients

J Solignac, E Delmont, E Fortanier… - Clinical Kidney …, 2022 - academic.oup.com
ABSTRACT Background Hereditary transthyretin amyloidosis (ATTRv) is a disabling and life-
threatening disease that primarily affects the nervous system and heart. Its kidney …

Current approaches to the diagnosis and management of amyloidosis

MS Taylor, H Sidiqi, J Hare, F Kwok… - Internal Medicine …, 2022 - Wiley Online Library
Amyloidosis is a collection of diseases caused by the misfolding of proteins that aggregate
into insoluble amyloid fibrils and deposit in tissues. While these fibrils may aggregate to form …