Patient-reported outcomes on familial amyloid polyneuropathy (FAP)

Orphanet Journal of Rare Diseases

Martin Dugas¹  Hartmut H. Schmidt²  Fabian J. Bolte²  Anna Hüsing-Kabar²  Frauke Friebel²  Christel Langenstroer² 

[1] Institut für Medizinische Informatik, Universitätsklinikum Münster, Münster, Germany;Medizinische Klinik B (Gastroenterologie, Hepatologie, Endokrinologie, Klinische Infektiologie), Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A14, 48149, Münster, Germany;

关键词: Transthyretin;    Amyloidosis;    Patient reported outcomes;    Disease burden;    Disability;   

DOI  :  10.1186/s13023-020-01575-6

来源: Springer

【 摘 要 】

BackgroundTransthyretin familial amyloid polyneuropathy (ATTR-FAP) is a rare autosomal dominant inherited disease affecting multiple organ systems. ATTR-FAP patients’ experiences have rarely been documented. The aim of this study was to collect patient reported outcomes across different countries to assess unmet needs and challenges. An anonymous survey was conducted at the 2nd European meeting on ATTR amyloidosis in Berlin in September 2019. Survey questions captured information on demographics, clinical characteristics, diagnostic experience, quality of life, disability and ATTR-FAP management.ResultsA total of 38 ATTR-FAP patients from 15 different countries participated in the survey. ATTR-FAP had a substantial impact on patients’ day-to-day life, including difficulties in standing, walking, and participation in community activities. It also had negative effects on the mental health of patients. The survey highlighted several unmet needs and challenges from a patients’ perspective, including (i) a need for increased awareness and a standardized diagnostic pathway, (ii) a need for better treatment access and supportive care and (iii) a need for better information about research and clinical trials.ConclusionsThis global patient survey provides valuable findings to address ATTR-FAP patients’ needs and challenges in order to further the goal of patient-centered care.

【 授权许可】

CC BY