Estimating the Global Prevalence of Transthyretin Familial Amyloid Polyneuropathy

Overview

Journal Muscle Nerve

Date 2017 Dec 7

PMID 29211930

Citations 83

Authors

Hartmut H Schmidt

Marcia Waddington-Cruz

Marc F Botteman

John A Carter

Avijeet S Chopra

Markay Hopps

Michelle Stewart

Shari Fallet

Leslie Amass

Affiliations

Soon will be listed here.

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.

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