Homozygous familial hypercholesterolemia in Japan

Mabuchi, Hiroshi; Tatami, Ryozo; Haba, Toshihiro; Ueda, Kosei; Ueda, Ryosei; Kametani, Tomio; Itoh, Seigo; Koizumi, Junji; Oota, Masayuki; Miyamoto, Susumu; Takeda, Ryoyu; Takeshita, Hitoshi

doi:10.1016/0002-9343(78)90822-7

Cited by 55 publications

(25 citation statements)

References 21 publications

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“…In Japanese heterozygotes aged 2 to 52 years, the mean and SD of serum total cholesterol levels were 342__79 mg/dl (range, 241 to 571 mg/dl), and in homozygotes, 713 _+142 mg/dl (range, 508 to 1,108 mg/dI) (Mabuchi et al, 1978). These results suggest that the mean plasma or serum total cholesterol levels for homozygotes with familial hypercholesterolemia is approximately double that of heterozygotes, and nearly quadruple that of normal subjects.…”

Section: Discussionmentioning

confidence: 79%

Pseudohomozygous type II hyperlipoproteinemia

et al. 1982

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SummaryA 12-month-old boy with clinical findings suggestive of homozygous familial hypercholesterolemia, who had no secondary causes of hypercholesterolemia, and whose parents had no lipid abnormalities, was reported. No abnormalities were noted in the low density lipoprotein (LDL) receptor activities of the fibroblasts from patient, parents and sibling.These features, combined with extreme responsiveness to available therapy, are strikingly suggestive of a new clinical hypercholesterolemic syndrome with manifestations resembling homozygous familial hypercholesterolemia.

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Section: Discussionmentioning

confidence: 79%

Pseudohomozygous type II hyperlipoproteinemia

et al. 1982

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“…2 It is characterized by markedly elevated plasma concentrations of LDL cholesterol. HeFH patients usually have a twofold increase in total cholesterol and LDL-derived cholesterol and typically present with cardiovascular disease in their 30s and 40s as in our patient.…”

Section: Discussionmentioning

confidence: 99%

“…Heterozygous FH (HeFH) (1:500) more frequent than homozygous FH (HoFH) (1:1 000 000) in general population. 2 FH is characterized by a high level of dominantly inherited hypercholesterolemia, early appearance of cutaneous and tendon xanthomata, and increased risk of premature coronary artery disease (CAD). Approximately 85% of males and 50% females of suffer from coronary events before 65 years old if they are not treated.…”

Section: Introductionmentioning

confidence: 99%

Aortic valve involvement and premature coronary artery disease in Heterozygous Familial Hypercholesterolemia

Şimşek¹,

Tuncer²,

Şahin³

et al. 2011

J Clin Exp Invest

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ÖZETAilesel hiperkolesterolemi (AH) arterlerde, ciltte ve tendonlarda aşırı kolesterol birikimine yol açan plazma kolesterol yüksekliği ile karakterize otozomal dominant bir hastalıktır. Multipl ksantomlar nedeniyle cildiye polikliniğine başvuran 34 yaşında bayan hasta için aterosklerotik hastalık açısından kardiyoloji konsültasyonu istendi. ABSTRACTFamilial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by an elevation of LDL cholesterol concentration in plasma leading to deposition of excess LDL-derived cholesterol in tendons, skin and arteries. We studied a 34 year old woman who applied to dermatology department due to multiple xanthomas. Cardiac consulting was demanded by dermatology department to determine development of atherosclerosis. Patient had no risk factor and symptom related to cardiac problem, except family history included premature coronary artery disease (CAD). On examination systolic murmur was present in aortic area. Echocardiography showed valvular severe aortic stenosis with a good left ventricle systolic function and severe left ventricular hypertrophy. The coronary arteriogram showed widespread CAD involving 3 coronary vessels. We report a case of heterozygous FH type II a with premature CAD and aortic valve involvement. J Clin Exp Invest 2011; 2 (3): 308-311.

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“…He had subsequently developed severe coronary artery disease and peripheral artery disease requiring bypass surgery at 66 years of age. His initial serum total cholesterol and triglyceride levels were 513 and 132 mg/dL, respectively, the severity of which ranged between typical homozygous and heterozygous FH caused by LDL receptor gene mutations 35) . In contrast to that observed in patients with homozygous FH resulting from LDL receptor gene mutations, statin therapy was effective in decreasing his cholesterol level (Fig.…”

Section: Role Of the Ldl Receptor And Its Related Proteinsmentioning

confidence: 99%