Humans ; Hyperlipoproteinemia Type II

No abstract available.
Humans ; Hyperlipoproteinemia Type II ; Xanthomatosis

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

No abstract available.
Aortic Valve Stenosis ; Coronary Stenosis ; Humans ; Hyperlipoproteinemia Type II

Adult ; Female ; Humans ; Hyperlipoproteinemia Type II ; complications ; Ventricular Fibrillation ; complications

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*

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

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*

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*

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