familial hypercholesterolemia

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excess of cholesterol in the blood.
familial hypercholesterolemia hyperlipoproteinemia (type II).

fa·mil·i·al hy·per·lip·o·pro·te·in·e·mi·a type II

[MIM*143890 and MIM*144400]
hyperlipoproteinemia characterized by increased plasma levels of β-lipoproteins and cholesterol, elevated or normal levels of triglycerides; heterozygotes have mild lipid changes and are susceptible to atherosclerosis in middle age, but homozygotes have severe changes (often with generalized xanthomatosis, xanthelasma, corneal arcus, and frank clinical atherosclerosis as young adults). This disorder is divided into two classes, both inherited as autosomal dominant with homozygotes more severely affected than heterozygotes: type IIA, which is characterized by elevated LDL but normal triglycerides and is due to a deficiency of the LDL receptor, a defect of the receptor or a modified LDL-apolipoprotein B-100, caused by mutation in the LDL receptor (LDLR) gene on chromosome 19p. SYN familial hypercholesterolemia; type IIB has elevated LDL, cholesterol, and triglycerides, due to dysregulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMG-CoA reductase), the rate-controlling enzyme in cholesterol biosynthesis. SYN familial hyperbetalipoproteinemia, familial hypercholesterolemic xanthomatosis.

familial hypercholesterolemia

familial hypercholesterolemia

Metabolic disease A common–
1:500 congenital AD defect in the LDL receptor gene, resulting in dysfunctional or absent receptors Clinical Early CAD in ♂, first MI by age 40–♀ may be asymptomatic throughout life, tendinous xanthomas, corneal arcus, xanthelasma; homozygotes have LDL-C > 600 mg/dL, tuberous xanthomas and fatal CAD in adolescence Lab ↑ LDL-C–300-500 mg/dL-20% of
cholesterol in this range is due to FH Management Smoking cessation, diet, exercise, drugs–bile-acid binding resins–eg, cholestipol, cholestyramine, nicotinic acid, ↓ cholesterol and ↓ saturated fat diet, liver transplant may provide LDL receptors

type II fa·mil·i·al hy·per·lip·o·pro·tein·e·mi·a

(tīp fă-mil'ē-ăl hī'pĕr-lip'ō-prō-tēn-ē'mē-ă)
Increased hematologic lipoprotein levels characterized by increased plasma levels of β-lipoproteins, cholesterol, and phospholipids, but normal triglycerides levels. Homozygotes have xanthomatosis and frank clinical atherosclerosis as young adults. The primary defect is a deficiency of apoprotein of very-low-density lipoproteins.
Synonym(s): familial hypercholesterolemia.
References in periodicals archive ?
Civeira F; International Panel on Management of Familial Hypercholesterolemia.
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
The report provides a snapshot of the global therapeutic landscape of Heterozygous familial hypercholesterolemia (heFH)
However, this effect is not seen in patients with familial hypercholesterolemia, especially in those patients with HoFH.
Kynamro is indicated as an adjunct to lipid-lowering medications and diet to reduce low density lipoprotein-cholesterol (LDL-C), apolipoprotein B (apo B), total cholesterol, and non-high density lipoprotein-cholesterol (non HDL-C) in patients with homozygous familial hypercholesterolemia.
Familial hypercholesterolemia (FH) is a group of genetic defects resulting in severe elevation of atherogenic blood cholesterol levels and high risk for premature atherosclerotic cardiovascular disease (ASCVD).
Diagnosing heterozygous familial hypercholesterolemia ysing new practical criteria validated by molecular genetics.
KEY WORDS: Familial hypercholesterolemia (FH) low density lipoprotein receptor (LDL-R) Direct PCR (polymerase chain reaction) Kappa Blood Kit.
The treatment of this case, the first on the world level, provides hope for many patients suffering from familial hypercholesterolemia, as the prognosis for such cases was poor due to the complications associated with the disease.
has unveiled that the European Commission has approved LOJUXTA (lomitapide) hard capsules as an adjunct to a low-fat diet and other lipid- lowering medicinal products with or without low density lipoprotein (LDL) apheresis in adult patients with homozygous familial hypercholesterolemia (HoFH).
The condition, called familial hypercholesterolemia, causes heart disease at a young age.
Familial hypercholesterolemia is most common autosomal dominant disorder which is characterized by increased LDL-C, tendon xanthomas, arcus cornea, LDL-R gene mutation, family history of hypercholesterolemia and premature coronary artery diseases.

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