Familial Hypercholesterolemia

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Familial hypercholesterolemia is a disorder of high LDL ("bad") cholesterol that is passed down through families, which means it is inherited. The condition begins at birth and can cause heart attacks at an early age. Familial hypercholesterolemia is a genetic disorder caused by a defect on chromosome 19. The defect makes the body unable to remove low density lipoprotein (LDL, or "bad") cholesterol from the blood. This results in high levels of LDL in the blood. High levels of LDL cholesterol make you more likely to have narrowing of the arteries from atherosclerosis at an early age. Those with familial hypercholesterolemia are more likely to have a family history of high cholesterol and heart disease at a younger age than normal. The condition is typically passed down through families in an autosomal dominant manner. That means you only need to get the abnormal gene from one parent in order to inherit the disease. In rare cases, a child may inherit the gene from both parents.When this occurs, the increase in cholesterol levels is much more severe, greatly increasing the risk for heart attacks and heart disease, even in childhood. Symptoms that may occur include:Fatty skin deposits called xanthomas over parts of the hands, elbows, knees, ankles, and around the cornea of the eye;Cholesterol deposits in the eyelids (xanthelasmas);Chest pain (angina) or other signs of coronary artery disease; may be present at a young age. Elevation of total cholesterol or elevation of cholesterol in circulating lipoproteins, including chylomicrons, LDL, VLDL, and intermediate-density lipoprotein. May be accompanied by a decrease in HDL. Usually symptomatically quiescent until significant degrees of atherosclerosis have occurred. Complications include MI, ischemic cardiomyopathy, sudden death, stroke, erectile dysfunction, peripheral vascular disease, and acute limb ischemia.

Symptoms:

Laboratory Test Procedures:

chest pain
fatty skin deposits over parts of the hands, elbows, knees, ankles, and around the cornea of the eye
cholesterol deposits in the eyelids

Cholesterol
Beta-globulin
Apo A (Apolipoprotein A-I)
Apo B (Apolipoprotein B)
LDL
DLDL
HDL
TRIG (Triglycerides)
Lp(a) (Lipoprotein little a)
TSH
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