• Journal of Dental Anesthesia and Pain Medicine
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• 제20권1호
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• pp.39-44
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• 2020

Homozygous familial hypercholesterolemia (HoFH) is a rare inherited disorder that presents as abnormally elevated levels of low-density lipoprotein cholesterol and premature heart disease, requiring frequent intervention through lipid apheresis for management. The risk of perioperative cardiac events is higher in patients with HoFH because of its pathophysiological manifestations in the vascular system. Careful cardiac precautions and anesthetic assessments are necessary to ensure patient safety. In the following case report, we discuss the clinical course and anesthetic considerations for a 14-year-old girl with HoFH undergoing sedation for dental extractions and mandibular molar uprighting in an outpatient oral surgery clinic. Considerations included the use of heparin in the patient's weekly plasma lipid apheresis treatment. In order to reduce the risks of peri- and postoperative bleeding and perioperative cardiac events, the operation was scheduled for 4 days after apheresis. This allowed for adequate heparin clearance, while also reducing the likelihood of possible cardiac events. A literature review revealed no results for the outpatient management of patients with HoFH undergoing sedation for noncardiac procedures. Our reported case serves as a clinical example for physicians to be utilized in the future.

• 비만대사연구학술지
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• 제2권1호
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• pp.29-35
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• 2023

Familial hypercholesterolemia (FH) is a genetic disease that is not well known or diagnosed in Korea. This disease is associated with persistently high levels of low-density lipoprotein cholesterol (LDL-C), which increase the risk of coronary artery disease at a young age. Therefore, early diagnosis and treatment are important; however, there are no global consensus diagnostic criteria. In Korea, the Dutch Lipid Clinic Network diagnostic criteria, and the Simon Broome diagnostic criteria were used for diagnosis of FH according to the agreement announced at the Korean Society of Lipid and Atherosclerosis (KSoLA) in 2022. Recently, the absence of coronary artery calcification has been considered a good prognostic factor, even among patients with very high LDL-C levels who are considered to be at high risk for atherosclerotic cardiovascular disease. We describe throughout this paper the diagnosis and treatment of FH in a young male without coronary artery calcification.

• 한국동물학회:학술대회논문집
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• 한국동물학회 1995년도 한국생물과학협회 학술발표대회
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• pp.346.1-346
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• 1995

No Abstract, See Full Text

• Journal of Genetic Medicine
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• 제2권2호
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• pp.65-70
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• 1998

Lysosomal acid lipase (LAL) plays a central role in the intracellular degradation of neutral lipids derived from plasma lipoproteins. In this study, we investigated the missense mutation within exon 2 of human LAL gene changing of codon -6 of prepeptide from threonine to proline. The Thr-6Pro mutation was detected by the HaeIII restriction fragment length polymorphism (RFLP) and single-strand conformation polymorphism (SSCP). We analyzed the mutation in subjects with 221 unrelated randomly selected control samples and 86 patients with familial hypercholesterolemia (FH) in Korea. We observed that mutation is present with high frequency in Korea compared to other populations studied previously. The frequency of PP homozygote in the FH group was observed considerably higher than that of control. However, there was no significant difference of genotype frequency between two groups. These results, together with the fact that plasma lipids and lipoproteins levels between genotypes showed no statistical difference, suggest that the Thr-6Pro mutation in the LAL gene may have no association with the increased risk of FH development.

• 대한골관절종양학회지
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• 제6권1호
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• pp.41-46
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• 2000

다발성 황색종을 보이는 가족성 고콜레스테롤혈증 환자 1례를 경험하고 수술 및 내과적 치료를 병행하였으며, 계속 추적관찰 중이기에 문헌고찰과 함께 이에 보고하고자 한다. 전신 22 곳에 다발성 황색종을 보이는 26세 남자의 가족성 고콜레스테롤혈증 환자에서 17군데의 황색종을 수술적으로 절제하고, 고콜레스테롤혈증에 대하여는 내과적 약물치료를 병행하였으며, 술 후 13개월 이상 추적 관찰하였다. 환자는 정상적인 수술창의 치유과정을 보였고, 술 후 Simvastatin 약물치료를 병행하고 있으며, 1년 후 최종추시시 종괴의 재발은 없었으나 고콜레스테롤혈증의 치료는 미세한 변화만을 보여 계속 내과적 추적관찰 중이다. 가족성 고콜레스테롤혈증은 저밀도지단백 콜레스테롤의 증가, 건 황색종 및 관상동맥 질환을 특징으로 하며, 상염색체 우성으로 유전되는 지질대사의 장애를 보이는 질환이다. 황색종은 보통 10대에 처음 발견되고 조기 진단에 중요한 단서가 될 수 있으며, 특히 종골건 황색종은 가족성 고콜레스테롤혈증의 첫 번째 임상징후로 나타날 수 있다. 고콜레스테롤혈증은 관상동맥경화증의 위험이 높아 조기 진단과 치료가 중요하며, 이에 정형외과 의사도 황색종의 수술적 제거외에 이러한 숨어 있는 질환을 진단할 수 있어야 하겠다.

• 지질동맥경화학회지
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• 제7권2호
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• pp.122-154
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• 2018

Familial hypercholesterolemia (FH) is typically associated with single gene mutation that is inherited by autosomal dominant manner. Due to high cardiovascular risk, aggressive discovery, diagnosis, and treatment of FH are critical. Although FH is being increasingly spotlighted, we do not have sufficient data on Korean patients with FH. Here, we present the content of symposium of the Education Committee, Korean Society of Lipid and Atherosclerosis held in May 2018: 1) epidemiology, clinical diagnosis, Korean FH data, and regulation in Korea; 2) genes associated with FH, sequencing process in suspicious proband, cascade screening, and difficulty in genetic diagnosis in FH; 3) the importance of lipid-lowering therapy in FH, conventional and novel therapeutics for FH; 4) diagnosis of FH in children and adolescence, screening, and treatment of FH in children and adolescence; 5) history of FH studies in Korea, the structure and current status of FH registry of Korean Society of Lipid and Atherosclerosis; and 6) difficulty in diagnosis of heterozygous and homozygous FH, drug intolerance and achievement of treatment target. Discussion between speakers and panels were also added. We hope that this article is helpful for understanding FH and future studies performed in Korea.

• 동의생리병리학회지
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• 제16권2호
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• pp.380-388
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• 2002

The inhibitory effects of the traditional herbal medicine Hwao-tang on the progression of the atherosclerotic lesions were studied using the spontaneous familial hypercholesterolemia (FH) model, Kurosawa and Kusanagi-hypercholesterolemic (KHC) rabbits. Hwao-tang is activate blood circulation, vital energy and regulate menstruation, etc. Nowadays, Hwao-tang is mainly used for the treatment of inflammation, hyperlipemia and arteriosclerosis. However, pharmacological mechanisms of Hwao-tang on lipid metabolism and atherosclerosis formation are poorly understood. We have investigated the pharmacological effects of Hwao-tang on hypercholesterolemia and atherosclerosis using a spontaneous experimental model. In conclusion, the protection of extracts of HOT and its herbs on the ischemic infarction induced artificially might be related to their inhibitory effects on DIC, platelet coagulation and thrombic action. These suggest that Hwao-tang has inhibitory effects on the development of atheromatous plaque formation in spontaneous FH model rabbits. It is possible that the anti oxidative effects of Hwao-tang on LDL led to the beneficial effects observed in this study.

• Journal of Chest Surgery
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• 제53권3호
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• pp.144-146
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• 2020

Supravalvar aortic stenosis (SVAS) is a rare congenital cardiac disease that usually co-occurs with Williams syndrome. In the adult population, a few SVAS cases have been reported in patients affected by homozygous familial hypercholesterolemia. However, because of the rarity of this disease entity, there is no standard surgical treatment for SVAS. Here, we present a case of successful surgical treatment using an autologous excised aortic patch in a 65-year-old patient with SVAS.

• 지질동맥경화학회지
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• 제7권2호
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• pp.77-87
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• 2018

Lowering serum low-density lipoprotein cholesterol (LDL-C) is the mainstay for reduction of risk of cardiovascular disease (CVD), the second most common cause of death in Korea. The 2015 Korean guidelines for management of dyslipidemia strongly recommend the use of statins in patients at risk of CVD. Statin therapy, which is the gold standard for CVD, reduces LDL-C level by 40% to 60% and is generally well tolerated. However, many patients are intolerant to statins and discontinue therapy or become nonadherent to therapy because of actual/perceived side effects. The most common of these side effects is the statin-associated muscle symptom (SAMS). Discontinuation and repetitive re-challenge with statins can help identify SAMS. If serum creatinine kinase level is more than 10 times the upper limit of normal, statin therapy must be stopped immediately, and the physician should identify possible causes including rhabdomyolysis and treat appropriately. In other patients, it might help to switch to a less potent statin or to use statins at intermittent non-daily dosing. To achieve target LDL-C level, non-statin lipid-lowering therapies such as dietary modifications, ezetimibe, and bile acid sequestrants may be added. Several new drugs have recently been approved for lowering LDL-C level. Alirocumab and evolocumab are monoclonal antibodies that inhibit proprotein convertase subtilisin/kexin type 9, and both drugs cause large reductions in LDL-C, similar to statins. Lomitapide and mipomersen are orphan drugs used as adjuncts to other lipid-lowering therapies in patients with homozygous familial hypercholesterolemia.

• 대한골관절종양학회지
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• 제9권1호
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• pp.52-60
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• 2003

목적: 건초에서 발생하는 거대 세포종(황색종)은 수부에서 발생하는 양성 연부조직 종양중 낭종 다음으로 흔하며, 수술 절제후, 간혹 재발 되기도 한다. 대부분 단발성으로 발생하나 가족성 고콜레스테롤혈증 환자에서는 다발성이며 대칭적 발생을 보인다. 저자들은 수부 건초에서 발생한 거대세포종의 임상적 특성과 수술 절제후 장기 추적 결과를 분석하였고, 특히 단발성 및 다발성 거대세포종 환자의 특성을 비교하였다. 대상 및 방법: 1995년부터 2002년까지 만 8년간 본 병원에서 수술 가료후 건초의 거대세포 종으로 확진된 총 21예(다발성 3예 포함)를 대상으로 임상 및 X-선상 분석을 하였으며, 수술 절제후 평균 16개월(3~46개월) 추적하여 재발여부 및 단발성과 다발성 거대세포종의 임상 과정을 비교 하였다. 결과: 총 21예중 14예(66.7%)가 여자였으며 40대에서 16예(76.2%)로 빈발하였고 평균 연령은 47세(19~68세)였다. 단발성 거대세포종 18예중 수지별 발생은 인지와 환지가 각4예씩, 소지(3예), 중지(2예) 및 모지(1예)의 순이었고, 수장부의 발생이 4예였다. 원위 및 중위 지골 부위가 9예(50%), 근위 지골 부위가 4예, 중수지골 및 중수지절 부위가 2예였다. 신전건(7예)보다 굴곡건(11예) 건초 이환이 더 많았고(양측 건이환 3예), 증상 발현에서 수술까지의 지연은 평균 14개월(3~48개월)이였다. 다발성 거대세포종 3예중 1예는 인지와 중지의 중위지골 부위에 발생하였고, 2예는 고콜레스테롤혈증을 동반한 20대 남자들에서 대칭적 거대세포종이 수부를 포함하여 22곳 및 12곳등 다발적 이환을 보였고, 외형상의 돌출로 보기 흉하거나 기능 제한을 초래하는 부위만 선택적으로 아전절제하였다. X-선상 연부조직 음영 증가외 4예에서 종괴의 압박에 따른 피질골 미란과 파열소견을 보였다. 수술시 3예에서 수지 신전건과 굴곡건의 양측 건초를 모두 침범하는 넓고 큰 다엽상 소견을 보였으며, 평균 16개월 추적중, 총 18예중 3예에서 재발(16.7%)하였다. 이들 재발예는 단발성 거대세포종중 굴곡건과 신전건 건초를 광범위하게 다엽상 이환을 하였거나 술전 X-선상 골피질의 파열이나 골미란등이 있어 불완전 절제를 시행한 경우들이었으며, 재 광범위 절제 하였고 추적 관찰 중이다. 단발성 및 다발성 거대세포종은 종괴의 병리 조직학상 유사함을 제외하면, 발생 기전이나 침범 부위와 정도, 동반 질환은 물론 치료와 예후에도 차이가 많아 서로 다른 질환으로 판단된다. 결론: 수부의 건초에서 발생하는 거대세포종(황색종)은 드물지 않은 종양으로 완전 절제가 필수적이며, 특히 가족성 고콜레스테롤혈증 환자에서는 다발성 건 황색종을 동반 할수 있어 치료에 유의해야 한다.