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hypercholesterolemia
Definition of Hypercholesterolemia.
Familial hypercholesterolemia is recognizable in childhood. Children and other relatives at risk for familial hypercholesterolemia can be screened checked for the condition. Familial hypercholesterolemia is due to a genetic defect in the receptor the dock on the surface of cells for LDL low density lipoprotein.
Pure hypercholesterolemia: Causes, symptoms, and treatment.
Two forms of the condition exist: heterozygous familial hypercholesterolemia HeFH and homozygous familial hypercholesterolemia HoFH. The HeFH condition occurs when a person inherits pure hypercholesterolemia from one parent. The HoFH condition occurs when a person inherits pure hypercholesterolemia from both parents.
UpToDate.
Hypercholesterolemia Symptoms, diagnosis and treatment BMJ Best Practice US.
Hypercholesterolemia is treated with lifestyle modifications such as dietary changes, exercise, and smoking cessation, as well as pharmacologic intervention with statin therapy, and selective use of the cholesterol absorption inhibitor ezetimibe or a proprotein convertase subtilisin/kexin type 9 PCSK9 inhibitor.
Clinical Genetic Testing for Familial Hypercholesterolemia JACC: Journal of the American College of Cardiology.
Conversely, high-risk patients may meet criteria for a clinical diagnosis of FH high LDL-C level and positive family history of hypercholesterolemia and premature CAD but may have negative FH genetic test results potentially due to other, undefined genetic causes of high LDL-C levels.
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Hypercholesterolemia Genetics Home Reference NIH.
Less commonly, hypercholesterolemia can be caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. Changes in the APOB gene result in a form of inherited hypercholesterolemia known as familial defective apolipoprotein B-100 FDB. LDLRAP1 mutations are responsible for another type of inherited high cholesterol, autosomal recessive hypercholesterolemia ARH.
Familial Hypercholesterolemia.
Medically reviewed by Judith Marcin, MD Written by Christine DiMaria and Winnie Yu Updated on January 9, 2019. Share on Pinterest. What is familial hypercholesterolemia? Familial hypercholesterolemia FH is an inherited condition that results in high levels of low-density lipoprotein LDL cholesterol.
Familial hypercholesterolemia: MedlinePlus Medical Encyclopedia.
Men and women with familial hypercholesterolemia typically are at increased risk of early heart attacks. Risk of death varies among people with familial hypercholesterolemia. If you inherit two copies of the defective gene, you have a poorer outcome. That type of familial hypercholesterolemia does not respond well to treatment and may cause an early heart attack.
Hypercholesterolemia.
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