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. 2018 May;57(5):829-837.
doi: 10.1002/mus.26034. Epub 2018 Feb 1.

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

Hartmut H Schmidt  1 , Márcia Waddington-Cruz  2 , Marc F Botteman  3 , John A Carter  4 , Avijeet S Chopra  3 , Markay Hopps  5 , Michelle Stewart  6 , Shari Fallet  5 , Leslie Amass  7
Affiliations

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

Hartmut H Schmidt et al. Muscle Nerve. 2018 May.

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.

Keywords: ATTR-FAP; amyloidosis; epidemiology; prevalence; transthyretin familial amyloid polyneuropathy.

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Figures

Figure 1
Figure 1
Record adjudication diagram shows the numbers of records adjudicated at each step of the comprehensive review. A total of 3,006 records potentially containing prevalence information were evaluated and 10 were ultimately retained. *Included record title and abstract review. **Records (2,005) excluded for not pertaining to amyloidosis and/or not expected to have prevalence information for ATTR‐FAP. ***Records (643) excluded for pertaining to other types of amyloidosis, records (206) excluded for containing ATTR‐FAP cases but no prevalence information, and records (142) excluded for being observational or interventional studies for ATTR‐FAP but without prevalence information. ATTR‐FAP, transthyretin familial amyloid polyneuropathy.
Figure 2
Figure 2
Extracted ATTR‐FAP prevalence values per 1 million general population (1M). The highest and lowest prevalence values reported in the literature were for subnational regions. The highest prevalence was reported in Northern Portugal (1,631.20/1M), and the lowest was reported in Sicily (0.20/1M). Values are categorized as A (endemic country, national estimate), B (endemic country, regional estimate), C (nonendemic country, national estimate), and D (nonendemic country, regional estimate). ATTR‐FAP, transthyretin familial amyloid polyneuropathy
Figure 3
Figure 3
Low, mid, and high country‐specific and global cumulative ATTR‐FAP prevalence. Countries are listed from top to bottom in order of lower to higher ATTR‐FAP population size. Prevalence values (per 1 million population) used in each calculation are listed in parentheses, and global cumulative prevalence is depicted as a curve in gray. *Countries for which prevalence estimates were based on extrapolation. ATTR‐FAP, transthyretin familial amyloid polyneuropathy.
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