Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus

Dardiotis, Efthimios; Koutsou, Panoelitsa; Papanicolaou, Eleni Zamba; Vonta, Filia; Kladi, Athina; Vassilopoulos, Demetrios; Hadjigeorgiou, Georgios M.; Christodoulou, Kyproula; Kyriakides, Theodoros

doi:10.1080/13506120802676948

Cited by 37 publications

(38 citation statements)

References 27 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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“…In contrast to its stereotyped evolution from symptom onset, FAP-TTRVal30Met shows a considerable variation in penetrance and age of onset in different populations [5]. Penetrance in Sweden, Cyprus and Portugal is 2%, 28% and 80% respectively [7][8][9][10]. The mean age of onset in Swedish, Cypriot, Japanese and Portuguese patients is 56.7, 46, 32 and 31.1 years respectively [8,9,11,12].…”

Section: Introductionmentioning

confidence: 98%

Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met

Dardiotis

Koutsou

Zamba‐Papanicolaou

et al. 2009

Journal of the Neurological Sciences

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“…Although patients with FAP ATTR Val30Met are generally considered to be concentrated in geographically restricted areas of Japan, Portugal and Sweden,1–4 6 7 11 recent analyses have revealed a late-onset form of this type of FAP distributed outside these endemic areas 5 11–13. The penetrance rate of FAP ATTR Val30Met is reported to differ among various regions 4 11 12 14 15. Recent epidemiological studies suggest the presence of new endemic foci in Ishikawa Prefecture in Japan as well as in the Mediterranean country of Cyprus 14 16.…”

Section: Introductionmentioning

confidence: 99%

Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas

Koike

Tanaka

Hashimoto

et al. 2012

J Neurol Neurosurg Psychiatry

177

191

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Objective The objective of this study was to elucidate the natural history of late-onset transthyretin Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) in non-endemic areas. Methods The authors retrospectively assessed the development of major clinical landmarks and abnormalities of nerve conduction and cardiac examination indices in 50 patients with an age of onset older than 50 years and no relationship to endemic foci.

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Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus

Cited by 37 publications

References 27 publications

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met

Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas

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