2.Infantile Intertriginous Xanthoma with Type IIa Hyperlipoproteinemia without Family History
Geun Hwi PARK ; Woo Il KIM ; Min Young YANG ; Won Ku LEE ; Tae Wook KIM ; Sung Min PARK ; Hyun Joo LEE ; Gun Wook KIM ; Hoon Soo KIM ; Hyun Chang KO ; Byung Soo KIM ; Moon Bum KIM ; Hyang Suk YOU
Korean Journal of Dermatology 2019;57(2):99-100
No abstract available.
Humans
;
Hyperlipoproteinemia Type II
;
Xanthomatosis
3.Executive summary of the 2020 Clinical practice guidelines for the management of Dyslipidemia in the Philippines
Lourdes Ella Gonzalez-Santos ; Raymond Oliva ; Cecilia Jimeno ; Eddieson Gonzales ; Maria Margarita Balabagno ; Deborah Ona ; Jude Erric Cinco ; Agnes Baston ; Imelda Caole-Ang ; Mia Fojas ; Ruzenette Felicitas Hernandez ; Ma. Cristina Macrohon-Valdez ; Maria Theresa Rosqueta ; Felix Eduardo Punzalan ; Elmer Jasper Llanes
Journal of the ASEAN Federation of Endocrine Societies 2021;36(1):5-11
Dyslipidemia is a cardiovascular risk factor that is increasing in prevalence in the country. The need to treat and manage elevated cholesterol levels, both pharmacologic and non-pharmacologic, is of utmost importance. Different medical societies and groups bonded together to formulate the 2020 Philippine Clinical Practice Guidelines for dyslipidemia. The group raised nine clinical questions that are important in dyslipidemia management. A technical working group analyzed the clinical questions dealing with non-pharmacologic management, primary prevention for both non-diabetic and individuals with diabetes, familial hypercholesterolemia, secondary prevention, adverse events of statins and the use of other lipid parameters as measurement of risk for cardiovascular disease. Randomized controlled trials and meta-analyses were included in the GRADE-PRO analysis to come up with the statements answering the clinical questions. The statements were presented to a panel consisting of government agencies, members of the different medical societies, and private institutions, and the statements were voted upon to come up with the final statements of the 2020 practice guidelines. The 2020 CPG is aimed for the Filipino physician to confidently care for the individual with dyslipidemia and eventually lower his risk for cardiovascular disease.
Dyslipidemias
;
Hyperlipoproteinemia Type II
;
Diabetes Mellitus
4.Ostial Coronary Stenosis and Severe Aortic Stenosis in a Patient With Familial Hypercholesterolemia.
Hasan KAYA ; Faruk ERTAS ; Zuhal Ariturk ATILGAN ; Sinan DEMIRTAS ; Ahmet CALISKAN
Korean Circulation Journal 2012;42(8):580-581
No abstract available.
Aortic Valve Stenosis
;
Coronary Stenosis
;
Humans
;
Hyperlipoproteinemia Type II
6.Analysis of clinical phenotypes and variants of LDLR gene in two Chinese patients with familial hypercholesterolemia.
Kexin WANG ; Tao SUN ; Xiaoping ZHANG ; Yahui ZHANG ; Hai GAO ; Yanlong REN ; Xiaoyan LI
Chinese Journal of Medical Genetics 2022;39(12):1344-1348
OBJECTIVE:
To explore the correlation between clinical phenotypes and pathogenic variants in two patients with familial hypercholesterolemia.
METHODS:
Both patients were subjected to whole exome sequencing (WES) with a focus on the analysis of genes associated with dyslipidemia. Candidate variants were verified by Sanger sequencing of the patients and their family members.
RESULTS:
WES revealed that the proband 1 has harbored two heterozygous variants of the LDLR gene, namely c.1360G>A (p.D454N) and c.292G>A (p.G98S), whilst proband 2 has harbored a heterozygous c.321T>G (p.C107W) variant of the LDLR gene. Based on the guidelines from the American College of Medical Genetic and Genomics (ACMG), the above variants were respectively predicted to be likely pathogenic (PM1+PM2+PP2+PP3+PP4+PP5), variant of unknown significance (PM1+PP2+PP3), and likely pathogenic (PM1+PM2+PP2+PP4+PP5). Treatment with PCSK9 inhibitor has attained a significant effect in proband 1 but no apparent effect in proband 2.
CONCLUSION
Variants of the LDLR gene probably underlay the familial hypercholesterolemia in the two pedigrees. The difference in the severity of the clinical phenotypes and response to PCSK9 inhibitor treatment between the two probands may be attributed to the different genotypes of the LDLR gene. Genetic testing not only can provide a basis for clinical diagnosis, but also facilitate the choice of lipid-lowering drugs.
Humans
;
China
;
Hyperlipoproteinemia Type II/genetics*
;
Phenotype
;
Receptors, LDL/genetics*
7.Two Cases of Hyperlipoproteinemia.
Suck Whan KIM ; Kyung Ho CHUN ; Eil Soo LEE ; Chong Ju LEE
Korean Journal of Dermatology 1982;20(1):101-107
We report two cases of hyperlipoproteinernia(HLP) with various cutaneous xanthomas. Case 1 was a 12-year-old girl, who had tuberous, tendinous, and plane cutaneous xanthomas and corneal arcus of the left eye. Case 2 was a 40-year-old man, who had tuberous, eruptive, and plane cutaneous xanthomas. Serum lipid and lipoprotein analysis reveoled patterns of Type IIa HLP in case 1 and, of Type IIb HLP, in case 2. They have been treated with diet control and hypolipidemic drugs and are under our continuing medical supervision.
Adult
;
Child
;
Female
;
Humans
;
Hyperlipoproteinemia Type II/diagnosis*
;
Hyperlipoproteinemia Type II/drug therapy*
;
Hypolipidemic Agents/therapeutic use*
;
Lipoproteins
;
Man
;
Xanthomatosis/diagnosis
;
Xanthomatosis/drug therapy
8.A Case of Type IIa Hyperlipoproteinemia with Xanthoma Striatum Palmare.
Korean Journal of Dermatology 2005;43(2):258-260
We report a case of type IIa hyperlipoproteinemia associated with xanthoma planum and xanthoma striatum palmare. The laboratory findings showed increased serum cholesterol and triglyceride on the lipid profile, and an increased beta fraction on electrophoresis of lipoprotein, suggesting type IIa hyperlipoproteinemia. The biopsy specimens of orange yellow colored plaques on the left axillary area of a 54-year-old female showed characteristic findings of xanthoma.
Biopsy
;
Cholesterol
;
Citrus sinensis
;
Electrophoresis
;
Female
;
Humans
;
Hyperlipoproteinemia Type II*
;
Lipoproteins
;
Middle Aged
;
Temazepam
;
Triglycerides
;
Xanthomatosis*
9.Penetrating Atherosclerotic Ulcer of the Descending Thoracic Aorta in a Patient with Heterozygote Familial Hypercholesterolemia.
Ki Hoon HAN ; Young Bae PARK ; Jung Don SEO ; Young Woo LEE
Korean Circulation Journal 1994;24(2):329-334
The penetrating atherosclerotic ulcer of the aorta resulting from the atherosclerosis of the aortic wall can clinically mimic type III aortic dissection, since both diseases produce the ulceration and dissection of aortic wall. However, their imaging features and pathophsiologies are distinctly different from each other. Familial hypercholesterolemia(FH) menifests overt hyperlipidemia that can results in premature atherosclerosis of the aorta as well as the coronary artery. We report a clinically and radiologically evident case of perntrating atherosclerotic ulcer of the descending thoracic aorta which was developed in a 36-year-oldd heterozygote FH male.
Aorta
;
Aorta, Thoracic*
;
Atherosclerosis
;
Coronary Vessels
;
Heterozygote*
;
Humans
;
Hyperlipidemias
;
Hyperlipoproteinemia Type II*
;
Male
;
Ulcer*
10.Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C-->T mutation of low-density lipoprotein receptor gene.
Jie LIN ; Lu-ya WANG ; Shu LIU ; Jun-hui XIA ; Qiang YONG ; Lan-ping DU ; Xiao-dong PAN ; Hong XUE ; Bao-sheng CHEN ; Zhi-sheng JIANG
Chinese Medical Journal 2008;121(9):776-781
BACKGROUNDFamilial hypercholesterolemia (FH), caused by low density lipoprotein (LDL) receptor (LDL-R) gene mutations, is associated with increased risk of premature coronary heart disease. Until now, limited molecular data concerning FH are available in China. The present study described the clinical profiles and cell biological defects of a Chinese FH kindred with novel LDL-R gene mutation.
METHODSThe patient's LDL-R gene coding region was sequenced. The patient's lymphocytes were isolated and the LDL-R expression, binding and up-take functions were observed by immunohistochemistry staining and flow cytometry detection. The patient's heart and the major large vessels were detected by vessel ultrasound examination and myocardial perfusion imaging (MPI).
RESULTSThe patient's LDL-R expression, LDL binding and up-take functions were significantly lower than normal control (39%, 63% and 76% respectively). A novel homozygous 1439 C-->T mutation of the LDL-R gene was detected in the patient and his family. ECG showed atypical angina pectoris. Echocardiogram showed stenosis of the coronary artery and calcification of the aortic valve and its root. Blood vessel ultrasound examination showed the thickness of large vessel intima, and the vessel lumen was narrowed by 71%. MPI showed ischemic changes.
CONCLUSIONSThe LDL-R synthesis dysfunction of FH patients leads to arterial stenosis and calcification, which are the major phenotype of the clinical disorder. The mutation of the LDL-R gene is determined. These data increase the mutational spectrum of FH in China.
Adult ; Child, Preschool ; Homozygote ; Humans ; Hyperlipoproteinemia Type II ; genetics ; Middle Aged ; Mutation ; Receptors, LDL ; genetics ; physiology