Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan

Mabuchi, Hiroshi; Nohara, Atsushi; Noguchi, Tohru; Kobayashi, Junji; Kawashiri, Masa‐aki; Tada, Hayato; Nakanishi, Chiaki; Mori, Mika; Yamagishi, Masakazu; Inazu, Akihiro; Koizumi, Junji

doi:10.1016/j.atherosclerosis.2010.11.005

Cited by 109 publications

(79 citation statements)

References 11 publications

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“…In 2011, Mabuchi et al reported an updated estimation of FH frequency in Japan. Based on 18 HoFH cases identified in a population of 3,081,000 in Hokuriku district and calculated using the Hardy-Weinberg equilibrium, the authors estimated that the frequencies of HoFH and HeFH were 1/171,167 (5.8 per million) and 1/208 (0.48%), respectively 25) . The estimated frequencies of HoFH and HeFH, according to this study, were much higher than the well-known estimations in Western populations.…”

Section: Frequency Of Fh In Asian Populationsmentioning

confidence: 99%

“…In 2012, the gene mutations for FH were identified in 130/208 patients clinically diagnosed with FH by the SBRG criteria in Taiwan, including 118 mutations in the LDLR gene and 12 in the ApoB gene 33) . In a Japanese study, 13/15 HoFH patients had LDLR gene mutations and 2/15 had PCSK9 gene mutations; among 10 HeFH patients with LDLR gene mutations, three patients also had PCSK9 gene mutations 25) . In 2014, a cohort of 1,055 HeFH patients and 41 HoFH patients was enrolled in a study in Japan 38) .…”

Section: Genotypes Of Fh Reported In Asian Populationsmentioning

confidence: 99%

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Familial Hypercholesterolemia in Asian Populations

Zhou

Zhao

2016

J Atheroscler Thromb

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Familial hypercholesterolemia (FH) is the most common autosomal disorder characterized by an elevated low-density lipoprotein-cholesterol level and a high risk of premature cardiovascular disease. In this review, we summarize information on FH studies in Asian countries, focusing on mean cholesterol level, FH frequency, diagnostic criteria, genotypes, and clinical care of FH patients in Asian populations. Compared with Western countries, most Asian countries had lower mean cholesterol levels, with a significant variation between different countries. In the limited studies reported, a frequency of 1/900 was reported in Hokuriku district, Japan in 1977 and a frequency of 1/85 among Christian Lebanese in 1979. Recently, a population study in China reported frequencies of 0.47% and 0.28%. However, the different FH frequencies reported were based on different diagnostic criteria. Of 28 publications from 16 Asian countries or regions, 14 used self-defined FH criteria. Only one specific guideline for FH was available, which was developed by Japanese scientists. Six Asian countries joined the Make Early Diagnosis to Prevent Early Deaths program in the late 1990s, and the estimated diagnosis rates of FH ranged from 3% to 10% in these countries. A more recent study explored the awareness, knowledge, and perception of FH among practitioners in Japan, Korea, and Taiwan. The study found that the correct rates of these FH-related questions were low and concluded that lack of country-specific criteria and guidelines may contribute to the lack of FH knowledge in the present survey. More attention and resources should be focused on raising awareness, improving care, and increasing FH research in Asian populations. J Atheroscler Thromb, 2016; 23: 539-549.

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Section: Frequency Of Fh In Asian Populationsmentioning

confidence: 99%

Section: Genotypes Of Fh Reported In Asian Populationsmentioning

confidence: 99%

Familial Hypercholesterolemia in Asian Populations

Zhou

Zhao

2016

J Atheroscler Thromb

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“…3,5) Tendon xanthomas appear as Achilles tendon thickness (ATT) in many cases, which can be diagnosed easily based on inspection and palpation. Patients with ATT of 9 mm or more on radiography should be regarded as having tendon xanthomas.…”

Section: Prevalence Of Heterozygous Fh In Acsmentioning

confidence: 99%

“…[3][4][5][6] However, the prevalence likely represents an underestimate in most countries because of a majority of patients with FH are undiagnosed. 4,7) The risk of premature coronary artery disease (CAD) is elevated to about 20-fold in heterozygous FH.…”

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Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

et al. 2017

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SummaryHeterozygous familial hypercholesterolemia (FH) represents a strong risk for development of premature coronary artery disease (CAD). However, the majority of patients with FH are undiagnosed and the prevalence likely represents an underestimate in most countries. In Japan, the possible contribution of FH to the development of CAD may be higher because of the low incidence of CAD among the general population. We estimated the prevalence of heterozygous FH by measuring Achilles tendon thickness (ATT) in patients with acute coronary syndrome (ACS).A total of 359 patients suffering from ACS were enrolled in this multicenter registration study. Heterozygous FH was defined according to the diagnostic criteria proposed by the Japan Atherosclerosis Society. After excluding 63 patients because of missing ATT data or plasma triglyceride levels that were 4.5 mmol/L or more, 296 patients were eligible for inclusion in the study. The number of patients with ATT of 9 mm or more was 53 (17.9%). They were significantly younger and had significantly higher LDL cholesterol levels than patients with an ATT less than 9 mm. The prevalence of heterozygous FH was 5.7% (1/17.5) and more prominent in younger patients who were less than 60 years old (7.8%). In patients with ATT of 9 mm or more, approximately 1 in 3.5 fulfilled the criteria for heterozygous FH.We demonstrated the usefulness of measuring ATT by radiography and the high prevalence of heterozygous FH in patients with ACS in Japan, especially in younger patients who were less than 60 years old. (Int Heart J 2017; 58: 88-94)

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Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors

Tani,

Matsunaga,

Toda

et al. 2024

Clinical Case Reports

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Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan

Abstract: Methods: Twenty-five homo-FH patients were recruited. LDLR mutations were identified using the Invader assay method. Mutations in PCSK9 were detected by PCR-SSCP followed by direct sequence analysis.

Cited by 109 publications

References 11 publications

Familial Hypercholesterolemia in Asian Populations

Familial Hypercholesterolemia in Asian Populations

Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors

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