한국인 가족성 고콜레스테롤혈중환자의 임상적 특성

박영배(Yong Bae Park),한기훈(Ki Hoon Han),최영진(Young Jin Choi),최성주(Sung Joo Choi),손대원(Dae Won Sohn),오병희(Byung Hee Oh),이명묵(Myong Mook Lee),최윤식(Yun Shik Choi),서정돈(Jung Don Seo),이영우(Young Woo Lee) 대한내과학회 1994 대한내과학회지 Vol.47 No.1

Background: Familial hypercholesterolemia (FH) is a frequent dyslipemic disorder (one in 500 in Caucasian) inherited by autosomal dominant trait and constitutes about 59 of all cases who have myocardial infarction. While this disorder is of clinical importance, little is reported about familial hypercholesterolemia in Korea. Method: We analysed the lipid profiles, Achilles tendon thickness, body mass index, lipoprotein levels and lipoprotein (a)(Lp(a)) in patients (N=26) with FH and their first degree relatives (N = 92) who visited the Seoul National University Hospital between January 1991 and August 1992. Clnical characteristics and coronary angio-graphic findings were also analysed in probands and their first degree relatives affected with familial hypercholesterolemia. 1) Twenty seven out of 92 first degree relatives were affected with familial hypercholesterolemia, The overall morbidity was 42.39(53 out of 118) and both sexes were equally affected (male: female=26:27), suggesting that familial hypercholesterolemia is autosomally inherited disorder. 2) The mean cholesterol level of the affected was abnormally very high (mean 345. 6 mg/dl) and was similar to that of Japanese studies on familial hypercholesterolemia. Lp (a), another risk factor of coronary artery disease, was higher (mean 24, 5 mg/dl) in the affected than in normal controls. 3) Achilles tendon thickness was significantly increased in all the cases with familial hypercholesterolemia (N =30, mean l3.7 mm, mean age 46.2 years: 23~75 years), compared with that of those who were not affected with familial hypercholesteolemia (N =20 mena 6. 9 mm, mean age 46 8 years), suggesting that thickening of Achilles tendon is a specific clinical finding of familial hypercholesterolemia (FH). 4) Patients with FH and coronary artery disease (CAD) were significantly older than FH patients without CAD (p<0,01). The coronary atherosclerosis score (CAS: Jenkins 1978) was positively correlate with age (R=0.91), which suggested that developement of CAD and the degree of coronary atherosclerosis was associated with the duration of exposure to, hypercholesterolemia. 5) The significant stenosis of coronary artery develped on proximal segments (14 out of 28 lesions N = 1) according to the findings of coronary arteriography, suggesting that CAD in FH can produee more fatal outcomes. Conclusion: Familial hypercholesterolemia is autosomal dominant inherited disorder of lipid mctabolism and is closely associated with coronary artery disease. The affected are almost totally asymptomatic until they experience angina or myocardial infarction, To prevent the fatal outcome due to coronary artery disease, more intense clinical attention sould be paid to detect familial hypercholesterolemia proband and its affected asymptomatic first degree relatives through pedigree study.

Pediatric tuberous xanthoma as a feature of familial hypercholesterolemia: a case report

( Da-ae Yu ),( Ohsang Kwon ),( Kyu Han Kim ) 대한피부과학회 2018 대한피부과학회 학술발표대회집 Vol.70 No.1

Familial hypercholesterolemia, also known as type IIa hyperlipoproteinemia, is a lipid metabolism disorder characterized by high level of low-density lipoprotein (LDL), xanthomas, and early onset of cardiovascular diseases. Tuberous xanthomas are non-tender, yellow, subcutaneous nodules that usually involve the extensor of limbs and buttock in patients with familial hypercholesterolemia. A 10-year-old boy presented multiple asymptomatic yellow nodules and papules on the left elbow and right knee for 2 years. The patient had no underlying disease but had family history of acute myocardial infarction of his father. His mother was previously diagnosed with gestational diabetes mellitus and hypercholesterolemia, and his fraternal twin had mental retardation. Routine laboratory results were normal, but serum lipid profile showed markedly increased level of total cholesterol (421 mg/dl) and LDL (351 mg/dl). Lipoprotein electrophoresis revealed the increase of the beta-fraction (73.7%). No mutation was detected in coding region of LDL receptor (LDLR) gene. Based on the clinical features and laboratory results, the patient was subsequently diagnosed as tuberous xanthoma with familial hypercholesterolemia. After starting atorvastatin daily, the serum lipid profiles showed improvement in 4 months. This is a case of tuberous xanthomas that developed early in childhood as the first manifestation of familial hypercholesterolemia.

정상콜레스테롤혈증과 고콜레스테롤혈증을 가진 폐경 후 여성의 영양소 섭취량 비교

김상연,정경아,최윤정,이석기,장유경 대한지역사회영양학회 2000 대한지역사회영양학회지 Vol.5 No.3

The purpose of this study was to explore the difference in nutrient intakes between normocholesterolemia and hypercholesterolemia. The subjects were classified as normocholesterolemia and hypercholesterolemia based on The Guideline for Korean Hyperlipidemia. A semiquantitative food frequency questionnaire was used to measure the dietary intakes of the subjects. The results obtained are summarized as follows. Intakes of nutrients such as energy, carbohydrate, protein, fat, minerals, and antioxidant vitamins were not significantly different between the normocholesterolemia group and hypercholesterolemia group. However, antioxidant vitamins and folate intakes in the hypercholesterolemia group tended to be lower than those in the normocholesterolmia group. Intakes of vitamin A, vitamin E, and Ca in normocholesterolemia was much less than the RDA for those nutrients in normocholesterolemia. Cholesterol intake in the hypercholesterolemia group was significantly higher than that in the normochoesterolemia group. However, mean cholesterol intake(240 mg/day) of the hypercholesterolemia group was much less than that of Americans whose cholesterol intake was 400 - 500 me/day. Fatty acid intakes were not significantly different between normocholesterolemia and hypercholesterolemia groups but the hypercholesterolemia group tended to consume $\omega$3 fatty acids less than the normocholesterolemia group. Out data indicate that cholesterol intake is man important determinant of serum cholesterol levels in postmenopausal women. The results of this study provide information that is important in designing appropriate dietary guidelines for hypercholesterolemia in postmenopausal women.

고콜레스테롤혈증을 지닌 폐경 후 여성의 영양소 섭취 평가

김상연,정경아,장유경 漢陽大學校 韓國生活科學硏究所 2003 韓國 生活 科學 硏究 Vol.- No.21

Women have a greater incidence of coronary heart disease(CHD) after menopause. It relates to hormone imbalance-induced changes in known CHD risk factors, especially hyperlipidemia. Accordingly, once women are diagnosed, the rate of morbidity and mortality is greater than for men. Thus, preventive strategies are critical to improve the quality of life in the later years for women. The purpose of this study was to explore the difference of nutrient intakes and diet quality based on nutrient intake between normocholesterolemia and hypercholesterolemia. The subjects were classified as normocholesterolemia and hypercholesterolemia based on The Guideline for Korean Hyperlipidemia. The semiquantitative food frequency questionnaire was used to measure dietary intakes of the subjects. The results obtained are summarized as follows. Intakes of nutrients such as energy, carbohydrate, protein, fat, minerals and antioxidant vitamins were not significantly different between normocholesterolemia group and hypercholesterolemia group. However, antioxidant vitamins and folate intakes in hypercholesterolemia group tended to be lower than those in normocholesterolmia group. Intakes of vitamin A, vitamin E, and Ca in normocholesterolemia and hypercholesterolemia groups were below RDA. In particular, RDA for those nutrients in hypercholesterolemia was much less than RDA for those nutrients in normocholesterolemia. MAR and INQ in hypercholesterolemia group tended to be lower than those in normocholesterolemia. In particular, INQ of vitamin A was significantly(p<0.05) lower in hypercholesterolemia group than in normocholesterolemia group. These results indicate that it is important to use various diet quality index based on nutrient intake such as % RDA, NAR, MAR, and INQ to explore the relationship between blood cholesterol and nutrient intake. Key words : postmenopausal women, hypercholesterolemia,, % RDA, NAR, MAR, INQ

고콜레스테롤혈증 환자 진료의 질 향상을 위한 임상 지침 리마인더(Reminder)와 추적 관리지의 효과

조한규,박혜순,조홍준 한국의료QA학회 1997 한국의료질향상학회지 Vol.4 No.2

Background : Hypercholesterolemia is a major independent risk factor of coronary heart disease. Practice guidelines for management of hypercholesterolemia had been made in several developed countries. This study was undertaken to assess the effect of practice guideline reminders and flow-sheets to improve the quality of management of hypercholesterolemia. Methods : Practice guideline reminders and flow-sheets based on National Cholesterol Education Program Adult Treatment Panel Ⅱ guidelines, were placed on the office desks of outpatient department of family medicine at the Asan Medical Center. Before this intervention, we educated he doctors to use these reminders and flow-sheets. The charts of all patients who had cholesterol levels greater than or equal to 240㎎/㎗ during 4 months before and after introduction of reminders and flow-sheets, were reviewed retrospectively We compared the performances of physicians about management of hypercholesterolemia between pre-intervention period and post-intervention period. Results : The detection rate of hypercholesterolemia in post intervention period was increased to 83.2% compared by 715% in pre-intervention period. Risk factor analysis for coronary heart disease increased significantly from 16.9% to 68.7%. Adequacy of management was 19.2% in pre-intervention period and 78.0% in post-intervention period. It showed statistically significant improvement in management of hypercholesterolemia. Conclusion : This study suggested that practice guideline reminders and flow-sheets were the effective methods in improving the quality in management of hypercholesterolemia.

익모초(益母草)와 충울자(衷蔚子)의 고지혈증(高脂血症) 억제 효능

이영종 ( Young Jong Lee ),김선제 ( Seon Jae Kim ),한효상 ( Hyo Sang Han ) 대한본초학회 2010 大韓本草學會誌 Vol.25 No.3

Objectives: The present study purposed to evaluate the effects of Leonuri Herba and Leonuri Semen on hypercholesterolemia and provide data for the appropriate clinical application of Leonuri Herba and Leonuri Semen. Methods: We applied the water extracts of Leonuri Herba and Leonuri Semen to rats with hypercholesterolemia induced by high-cholesteroldiet, and examined their effects. Results: The levels of the total cholesterol and LDL-cholesterol were reduced by the uptake of Leonuri Herba to rats with hypercholesterolemia, but there was no significant effect on the level of TG(triglyceride), HDLc(HDL-cholesterol), FFA(free fatty acid), and Fc(free cholesterol), while the amount of AST and ALT was inhibited. The application of Leonuri Semen brought about the decrease of the total cholesterol and Fc, the increase of TG, HDLc, and FFA, and the significant decrease of the activation of AST. Leonuri Herba had only a weak effect on hypercholesterolemia, while Leonuri Semen had a strong effect on the reduction of the symptoms of hypercholesterolemia. Conclusion: Based on the fact that Leonuri Herba had only a weak effect on hypercholesterolemia, while Leonuri Semen had a strong effect on the reduction of the symptoms of hypercholesterolemia, it is concluded that Leonuri Semen is a better solution for hypercholesterolemia than Leonuri Herba.

Increased interleukin-6 and TP53 levels in rotator cuff tendon repair patients with hypercholesterolemia

Jong Pil Yoon,Seung Gi Min,Jin-Hyun Choi,Hyun Joo Lee,Kyeong Hyeon Park,Sung Hyuk Yoon,Seong Soo Kim,Seok Won Chung,Hun-Min Kim,Dong Hyun Kim 대한견주관절의학회 2022 대한견주관절의학회지 Vol.25 No.4

Background: A previous study reported that hyperlipidemia increases the incidence of tears in the rotator cuff tendon and affects healing after repair. The aim of our study was to compare the gene and protein expression of torn rotator cuff tendons in patients both with and without hypercholesterolemia. Methods: Thirty patients who provided rotator cuff tendon samples were classified into either a non-hypercholesterolemia group (n=19, serum total cholesterol [TC] <200 ㎎/dL) and hypercholesterolemia group (n=11, serum TC ≥240 ㎎/dL) based on their concentrations of serum TC. The expression of various genes of interest, including COL1A1, IGF1, IL-6, MMP2, MMP3, MMP9, MMP13, TNMD, and TP53, was analyzed by real-time quantitative reverse transcription polymerase chain reaction (qRT-PCR). In addition, Western blot analysis was performed on the proteins encoded by interleukin (IL)-6 and TP53 that showed significantly different expression levels in real-time qRT-PCR. Results: Except for IGF1, the gene expression levels of IL-6, MMP2, MMP9, and TP53 were significantly higher in the hypercholesterolemic group than in the non-hypercholesterolemia group. Western blot analysis confirmed significantly higher protein levels of IL-6 and TP53 in the hypercholesterolemic group (p<0.05). Conclusions: We observed an increase in inflammatory cytokine and matrix metalloproteinase (MMP) levels in hypercholesterolemic patients with rotator cuff tears. Increased levels of IL-6 and TP53 were observed at both the mRNA and protein levels. We suggest that the overexpression of IL-6 and TP53 may be a specific feature in rotator cuff disease patients with hypercholesterolemia.

LJ-1888, a selective antagonist for the A₃ adenosine receptor, ameliorates the development of atherosclerosis and hypercholesterolemia in apolipoprotein E knock-out mice

( Jong-gil Park ),( Se-jin Jeong ),( Jinha Yu ),( Gyudong Kim ),( Lak Shin Jeong ),( Goo Taeg Oh ) 생화학분자생물학회(구 한국생화학분자생물학회) 2018 BMB Reports Vol.51 No.10

Cardiovascular diseases arising from atherosclerosis are the leading causes of mortality and morbidity worldwide. Lipid-lowering agents have been developed in order to treat hypercholesterolemia, a major risk factor for atherosclerosis. However, the prevalence of cardiovascular diseases is increasing, indicating a need to identify novel therapeutic targets and develop new treatment agents. Adenosine receptors (ARs) are emerging as therapeutic targets in asthma, rheumatoid arthritis, cancer, ischemia, and inflammatory diseases. This study assessed whether LJ-1888, a selective antagonist for A₃ AR, can inhibit the development of atherosclerosis in apolipoprotein E knock-out (ApoE^-/-) mice who are fed a western diet. Plaque formation was significantly lower in ApoE^-/- mice administered LJ-1888 than in mice not administered LJ-1888, without any associated liver damage. LJ-1888 treatment of ApoE^-/- mice prevented western diet-induced hypercholesterolemia by markedly reducing low-density lipoprotein cholesterol levels and significantly increasing high-density lipoprotein cholesterol concentrations. Reduced hypercholesterolemia in ApoE^-/- mice administered LJ-1888 was associated with the enhanced expression of genes involved in bile acid biosynthesis. These findings indicate that LJ-1888, a selective antagonist for A₃ AR, may be a novel candidate for the treatment of atherosclerosis and hypercholesterolemia. [BMB Reports 2018; 51(10): 520-525]

고콜레스테롤혈증 환자에서 활성화된 혈소판 Glycoprotein Ⅱb/Ⅲa의 증가

주승재,이재우,박양생 대한순환기학회 1998 Korean Circulation Journal Vol.28 No.12

Treatment Gap in the National Health-screening Program in Korea: Claim-based Follow-up of Statin Use for Sustained Hypercholesterolemia

Ahn, Eunmi,Shin, Dong Wook,Yang, Hyung-kook,Yun, Jae Moon,Chun, So Hyun,Suh, Beomseok,Lee, Hyejin,Son, Ki Young,Cho, BeLong The Korean Academy of Medical Sciences 2015 JOURNAL OF KOREAN MEDICAL SCIENCE Vol.30 No.9

<P>Participation in a screening program by itself may not improve clinical outcomes. Treatment gaps in the program may limit its full benefit. We evaluated statin prescription rates for subjects with sustained hypercholesterolemia to assess the treatment gaps in the National Health Screening Program (NHSP) in Korea. A retrospective, random cohort was established among National Health Insurance Corporation (NHIC) members. Finally, we examined 465,499 individuals who attended the NHSP from 2003 to 2010 without any history of dyslipidemia, statin prescription, or hospitalization for cardiovascular events until the end of 2002. The subsequent statin prescription rates were identified from the NHIC medical service claim database from 2003 to 2011. Descriptive data and odds ratio from multivariate logistic analyses on statin prescription rates and the corresponding correlations were evaluated. The NHSP detected 114,085 (24.5%) cases of newly diagnosed hypercholesterolemia. However, only 8.6% of these received statin prescription within 6 months of diagnosis. For cases of sustained hypercholesterolemia determined in the next screening visit by the NHSP, the statin prescription rate increased, but only to 12.2%. Statin prescriptions were more common among females, older individuals, and hypertension or diabetes patients. Furthermore, the statin prescription rates had increased over the study period. The NHSP exhibited low statin prescription rate which has been improving. For the NHSP to be effective, it would be worthwhile to decrease the gap between the diagnosis of hypercholesterolemia and the following treatment.</P>