Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus

Kato-Motozaki, Yuko; Ono, Kenjiro; Shima, Keisuke; Morinaga, Akiyoshi; Machiya, Tomohiko; Nozaki, Ichiro; Shibata-Hamaguchi, Ayumi; Furukawa, Yutaka; Yanase, Daisuke; Ishida, Chiho; Sakajiri, Kenichi; Yamada, Masahito

doi:10.1016/j.jns.2008.02.019

Cited by 69 publications

(48 citation statements)

References 35 publications

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“…Among the 10 retained records, 8 records18, 21, 22, 23, 24, 25, 26, 27 directly reported 25 prevalence estimates pertaining to 11 countries (for pertinent details of the 10 retained records, see Table 1). National level prevalence estimates were reported for 10 of the countries, and these 10 constituted the core group of countries for which ATTR‐FAP population sizes were directly estimable.…”

Section: Resultsmentioning

confidence: 99%

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

et al. 2018

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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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Section: Resultsmentioning

confidence: 99%

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

et al. 2018

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“…One can differentiate between endemic and nonendemic areas. Portugal is the country with the highest prevalence of the disease followed by Sweden and Japan [8,9,10]. …”

Section: Tablementioning

confidence: 99%

Familial Amyloid Polyneuropathy

Barreiros

Galle²,

Otto³

2013

Dig Dis

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Familial amyloid polyneuropathy (FAP; also known as familiar amyloidosis and hereditary amyloidosis) is an autosomal dominant inherited disease due to mutations of the transthyretin (TTR) gene coding for the corresponding protein, consisting of 127 amino acids. The gene is located on chromosome 18q. More than 100 different mutations are known. Other mutant precursor proteins produced in the liver, such as apolipoprotein I and II, lysozyme and fibrinogen Aα, may be of etiological importance as well. Amyloidogenic mutations of the TTR gene lead to decreased stability of the corresponding protein and subsequently to extracellular deposition of amyloid in several tissues (peripheral and autonomic nerves, walls of the gastrointestinal tract, heart, etc.). The Val30Met mutation is the most prevalent cause of FAP worldwide. There are endemic regions in Portugal, Sweden and Japan. The onset of symptoms is usually between 25 and 35 years of age, but late-onset families are also known. The most common clinical symptoms are polyneuropathy of the lower limbs, rhythmological disturbances and diarrhea/obstipation. TTR amyloid is predominantly produced in the liver; only as few as 5% are synthesized in the retina and choroid plexus. Therefore, liver transplantation has become widely accepted as the ultimate curative treatment of this disease in order to prevent the ultimately fatal outcome and ameliorate disabling symptoms. Because of shortage of donor grafts, livers of FAP patients are used for domino liver transplantation. Last year, a new therapeutic option was approved by the European Medical Authority (EMA) for therapy of early-stage FAP. The first results of a multicenter-controlled trial have been published and show a benefit in patients with an early stage of disease regarding neurological symptoms as well as modified BMI. There are several other pharmacologic approaches that have been reported in the last years which may lead to stabilization of the TTR tetramer. Therefore, this might be the beginning of new therapeutic options with pharmacological therapies in patients with FAP.

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“…TTR-FAP is a rare disease with endemic populations predominantly in Portugal, Sweden [5] and Japan [6]. Portugal is known to have the largest patients' cohort [4], although previous prevalence studies have more than 25 years old cohorts and are available for regional-level investigations only [3].…”

Section: Introductionmentioning

confidence: 99%

Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study

et al. 2018

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Background: Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a rare, hereditary, progressive and neurodegenerative disease. We aimed to study TTR-FAP epidemiology in Portugal. Methods: National, observational, prospective and retrospective, case identification of adults with TTR-FAP. Countrywide patient multiple identification sources included reference centers registries and centralized medical electronic prescription database. Crude rates were reported per 100,000 adult inhabitants. Results: Over 2010–2016 period, mean incidence rates was 0.87/100,000 (95% CI 0.68–1.10) corresponding to 71 new patients yearly, that has decreased 31% in the last 7 years. The proportion of late-onset cases (age ≥50 years) among incident cases was 28.7%. Estimated crude 2016 prevalence was 22.93/100,000 adult inhabitants (95% CI 21.90–23.99) corresponding to 1,865 TTR-FAP individuals in Portugal (45.8% male; mean age: 52.3 ± 15.4 years). In 2016, the Portuguese region with the highest TTR-FAP prevalence shows a 16% prevalence increase over the last 25 years. Conclusions: In Portugal, TTR-FAP affects both genders and mainly young adults. TTR-FAP incidence appears to be decreasing while prevalence is increasing. In comparison to previous studies, there is an increased representativeness of late-onset patients. This epidemiological setting poses future and complex challenges for the social and healthcare system, strengthening the relevance of regular epidemiologic surveillance.

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Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus

Cited by 69 publications

References 35 publications

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

Familial Amyloid Polyneuropathy

Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study

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