Patient-reported outcomes on familial amyloid polyneuropathy (FAP)
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RESEARCH
Patient‑reported outcomes on familial amyloid polyneuropathy (FAP) Fabian J. Bolte1* , Christel Langenstroer1, Frauke Friebel1, Anna Hüsing‑Kabar1, Martin Dugas2 and Hartmut H. Schmidt1
Abstract Background: Transthyretin familial amyloid polyneuropathy (ATTR-FAP) is a rare autosomal dominant inherited dis‑ ease 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. Results: A total of 38 ATTR-FAP patients from 15 different countries participated in the survey. ATTR-FAP had a sub‑ stantial 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 diagnos‑ tic pathway, (ii) a need for better treatment access and supportive care and (iii) a need for better information about research and clinical trials. Conclusions: This global patient survey provides valuable findings to address ATTR-FAP patients’ needs and chal‑ lenges in order to further the goal of patient-centered care. Keywords: Transthyretin, Amyloidosis, Patient reported outcomes, Disease burden, Disability Background Transthyretin familial amyloid polyneuropathy (ATTRFAP) is an autosomal dominant inherited condition with over 100 different mutations identified worldwide in the transthyretin (TTR) gene [1, 2]. The most common mutation is Val30Met [1]. ATTR-FAP is estimated to affect 10,186 people worldwide. The prevalence varies across geographic regions and is higher in endemic countries like Portugal, Japan, Sweden and Brazil [3–5]. ATTR-FAP is characterized by the deposition of TTR amyloid fibrils in different organ systems [1, 5]. The most *Correspondence: f.bolte@uni‑muenster.de 1 Medizinische Klinik B (Gastroenterologie, Hepatologie, Endokrinologie, Klinische Infektiologie), Universitätsklinikum Münster, Albert‑Schweitzer‑Campus 1, Gebäude A14, 48149 Münster, Germany Full list of author information is available at the end of the article
common form of ATTR-FAP affects the peripheral and autonomic nervous system, resulting in a length-dependent peripheral neuropathy. Thus, ATTR-FAP patients can present with various symptoms including loss of sensation in the extremities, carpal tunnel syndrome, erectile dysfunction, diarrhea, constipation and orthostatic hypotension [6–8]. The cardiac form of ATTR-FAP results in progressive heart failure with arrhythmias [9]. Due to the non-specific nature of symptoms, ATTR-FAP patients may
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