Consensus recommendations on holistic care in hereditary ATTR amyloidosis: an international Delphi survey of patient advocates and multidisciplinary healthcare …

L Obici, R Callaghan, J Ablett, C Bibiloni, T Bueser… - BMJ open, 2023 - bmjopen.bmj.com
Background Hereditary transthyretin-mediated amyloidosis is a rare, progressive and
potentially life-limiting multisystem disease, affecting every aspect of a patient's life …

Needs of amyloidosis patients and their care providers: design & first results of the  AMY-NEEDS research and care program

SM Ihne-Schubert, T Radovic, S Fries, S Frantz… - Orphanet Journal of …, 2024 - Springer
Background Amyloidosis represents a rare yet heterogeneous multi-system disorder
associated with a grave prognosis and an enormous psycho-emotional strain on patients …

A simple core dataset and disease severity score for hereditary transthyretin (ATTRv) amyloidosis

T Damy, I Conceição, P García-Pavía, J Gillmore… - Amyloid, 2021 - Taylor & Francis
Abstract Background Hereditary transthyretin (ATTRv) amyloidosis is a progressive
multisystemic disease of adult-onset that arises from an inherited mutation in the …

Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being

A Lovley, K Raymond, SD Guthrie, M Pollock… - Journal of Patient …, 2021 - Springer
Background Hereditary transthyretin (hATTR) amyloidosis is a rare, systemic, progressive,
and life-threatening disease in which transthyretin proteins misfold and aggregate as …

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 …

Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country

RS Szor, F Fernandes, AMM Lino… - Orphanet Journal of …, 2022 - Springer
Background Systemic amyloidosis is caused by the deposition of misfolded protein
aggregates in tissues, leading to progressive organ dysfunction and death. Epidemiological …

Management of transthyretin amyloidosis

A Condoluci, M Théaudin… - Swiss medical …, 2021 - research-collection.ethz.ch
Transthyretin amyloidosis (ATTR amyloidosis) is a disease caused by deposition of
transthyretin fibrils in organs and tissues, which causes their dysfunction. The clinical …

Single German centre experience with patient journey and care-relevant needs in amyloidosis: The German AMY-NEEDS research and care program

SM Ihne-Schubert, M Leberzammer, M Weidgans… - Plos one, 2024 - journals.plos.org
Background Amyloidosis is a rare multi-system disorder associated with frequently delayed
diagnosis, enormous disease burden and psychosocial distress. Methods Systematic …

Characterizing the high disease burden of transthyretin amyloidosis for patients and caregivers

M Stewart, S Shaffer, B Murphy, J Loftus, J Alvir… - Neurology and …, 2018 - Springer
Introduction Transthyretin amyloidosis (ATTR amyloidosis), whether manifesting as familial
amyloid polyneuropathy (ATTR-PN) or cardiomyopathy (ATTR-CM), is a progressive …

Patients with hereditary ATTR amyloidosis experience an increasing burden of illness as the disease progresses

D Adams, O Amitay, T Coelho - Orphanet Journal of Rare Diseases, 2015 - Springer
Background Hereditary ATTR amyloidosis with polyneuropathy, also known as Familial
Amyloidotic Polyneuropathy (FAP), is a rare, inherited, progressively debilitating disease …