Familial Hypercholesterolemia

Would you like to know what lab results mean? DDxHub - Differential Diagnosis Hub helps to understand and explains your blood test.

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.


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

Apo A (Apolipoprotein A-I)
Apo B (Apolipoprotein B)
TRIG (Triglycerides)
Lp(a) (Lipoprotein little a)
DDxHub Differential Diagnosis online system provides with more lab test procedures...

You have symptoms and blood work results. How do they correlate? What is the health condition? Some disorders have similar signs and laboratory values. DDxHub helps to define a right diagnosis. Run DDxHub now and enter symptoms and test results.

All information on this page is intended for your general knowledge only and does not provide medical advice, diagnosis or treatment. See Additional Information