Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

ABSTRACT 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), conf...

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Published inMuscle & nerve Vol. 57; no. 5; pp. 829 - 837
Main Authors Schmidt, Hartmut H., Waddington‐Cruz, Márcia, Botteman, Marc F., Carter, John A., Chopra, Avijeet S., Hopps, Markay, Stewart, Michelle, Fallet, Shari, Amass, Leslie
Format Journal Article
LanguageEnglish
Published United States Wiley Subscription Services, Inc 01.05.2018
John Wiley and Sons Inc
Subjects
Amyloid
Amyloid Neuropathies, Familial - diagnosis
Amyloid Neuropathies, Familial - epidemiology
amyloidosis
ATTR‐FAP
Basic Science Research
Electronics, Medical - statistics & numerical data
Epidemiology
Estimates
Extrapolation
Female
Global Health
Humans
Male
Mathematical analysis
Muscles
Polyneuropathy
Population number
Prevalence
Rare diseases
Searching
Transthyretin
transthyretin familial amyloid polyneuropathy
epidemiology
prevalence
amyloidosis
transthyretin familial amyloid polyneuropathy
ATTR-FAP
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Summary:ABSTRACT 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 Nerve 57: 829–837, 2018
Bibliography:M. Stewart, M. Hopps, S. Fallet, and L. Amass are employees of Pfizer Inc. M. F. Botteman and A. S. Chopra are employees of Pharmerit International, which received funding from Pfizer Inc. for study design, execution, analysis, and manuscript development. J. A. Carter is an independent scientific consultant who was funded by Pharmerit International. H. H. Schmidt and M. Waddington‐Cruz were investigators for the study and were not financially compensated for collaborative efforts on publication‐related activities. H. H. Schmidt has received support from FoldRx Pharmaceuticals (acquired by Pfizer Inc. in October 2010), Pfizer, IONIS, and Alnylam as a clinical investigator. M. Waddington‐Cruz has received support from FoldRx Pharmaceuticals as a clinical investigator, has served on the scientific advisory board of Pfizer Inc., has received funding from Pfizer Inc. for scientific meeting expenses (travel, accommodations, and registration), has received research support from the National Institutes of Health, and currently serves on the THAOS (Transthyretin Amyloidosis Outcomes Survey) scientific advisory board.
Conflicts of Interest
Funding
This research was supported by Pfizer Inc.
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Conflicts of Interest: M. Stewart, M. Hopps, S. Fallet, and L. Amass are employees of Pfizer Inc. M. F. Botteman and A. S. Chopra are employees of Pharmerit International, which received funding from Pfizer Inc. for study design, execution, analysis, and manuscript development. J. A. Carter is an independent scientific consultant who was funded by Pharmerit International. H. H. Schmidt and M. Waddington‐Cruz were investigators for the study and were not financially compensated for collaborative efforts on publication‐related activities. H. H. Schmidt has received support from FoldRx Pharmaceuticals (acquired by Pfizer Inc. in October 2010), Pfizer, IONIS, and Alnylam as a clinical investigator. M. Waddington‐Cruz has received support from FoldRx Pharmaceuticals as a clinical investigator, has served on the scientific advisory board of Pfizer Inc., has received funding from Pfizer Inc. for scientific meeting expenses (travel, accommodations, and registration), has received research support from the National Institutes of Health, and currently serves on the THAOS (Transthyretin Amyloidosis Outcomes Survey) scientific advisory board.
Funding: This research was supported by Pfizer Inc.
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.26034