期刊
MUSCLE & NERVE
卷 57, 期 5, 页码 829-837出版社
WILEY
DOI: 10.1002/mus.26034
关键词
amyloidosis; ATTR-FAP; epidemiology; prevalence; transthyretin familial amyloid polyneuropathy
资金
- Pfizer Inc
Introduction: This study sought to estimate the global prevalence of transthyretin familial amyloid polyneuropathy (ATTR-FAP). Methods: Prevalence estimates and information supporting prevalence calculations was extracted from records yielded by reference-database searches (2005-2016), conference proceedings, and nonpeer reviewed sources. Prevalence was calculated as prevalence rate multiplied by general population size, then extrapolated to countries without prevalence estimates but with reported cases. Results: Searches returned 3,006 records; 1,001 were fully assessed and 10 retained, yielding prevalence for 10 core countries, then extrapolated to 32 additional countries. ATTR-FAP prevalence in core countries, extrapolated countries, and globally was 3,762 (range 3639-3884), 6424 (range, 1,887-34,584), and 10,186 (range, 5,526-38,468) persons, respectively. Discussion: The mid global prevalence estimate (10,186) approximates the maximum commonly accepted estimate (5,000-10,000). The upper limit (38,468) implies potentially higher prevalence. These estimates should be interpreted carefully because contributing evidence was heterogeneous and carried an overall moderate risk of bias. This highlights the requirement for increasing rare-disease epidemiological assessment and clinician awareness. Muscle Nerve57: 829-837, 2018
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