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), 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

Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset

“…Prevalence in other endemic areas such as Northern Portugal, Northern Sweden and Nagano, Japan is estimated to be 163.1 in 100,000, 104 in 100,000 and 1.29 in 100,000 population respectively [22] Also, the age of onset varies across different endemic areas.…”

APOE polymorphism in ATTR amyloidosis patients treated with lipid nanoparticle siRNA

“…TTR encodes a highly conserved protein functioning as a transporter of thyroxine (T4) and vitamin A bound to the retinol-binding protein (RBP). More than 100 amyloidogenic mutations of TTR have been described that cause aggregation and amyloid fibril tissue deposition [1]. Clinical presentation of ATTR amyloidosis is diverse and commonly characterised by neurologic and/or cardiac symptoms [2].…”

Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years

“…However, its prevalence is widely believed to be under-estimated because diagnosis of ATTR-FAP is confounded by the non-specific nature of symptoms and a lack of disease awareness [8,9]. A more recent review suggests that ATTR-FAP prevalence may in fact range from 5526 to 38,468 people worldwide [10]. Accurate, timely diagnosis of ATTR-FAP is critical for early initiation of treatment to improve clinical outcomes and ameliorate disease progression [7,9].…”