Familial Hypercholesterolemia

Familial hypercholesterolemia is an inherited congenital disease that manifests with a high concentration of serum cholesterol. It is relatively common, occurring in about one person out of five hundred.

Causes

The disease is inherited and related to genetics. There are several subtypes* of familial hypercholesterolemia that have in common the defective transport of cholesterol molecules to the liver tissue where they are processed and excreted to the bile. This disorder results in abnormally high cholesterol levels at a young age.

 

* The most frequently mentioned type is the failure of the liver receptor for LDL (low-density lipoproteins) particles that carry cholesterol into the liver. The liver cells are unable to accept the cholesterol molecules because of the receptor defect.

Symptoms

High cholesterol does not hurt and it is usually found randomly. Very high cholesterol concentration may sometimes cause occurrence of cholesterol-filled lumps under the skin (xanthoma) or yellowish patches on the skin (xanthelasma), especially in the vicinity of eyes. Medical intervention is necessary no matter the symptoms because elevated cholesterol level accelerates the process of atherosclerosis and increases the risk of cardiovascular diseases including heart attack and ischemic stroke.

Diagnosis

High cholesterol can be found in blood tests, it is important to perform the blood tests on an empty stomach and examine not only the total cholesterol concentration but also of the LDL-cholesterol (“bad cholesterol”) and HDL-cholesterol (“good cholesterol”). Genetic testing may be performed in cases of familial incidence of a severe hypercholesterolemia to reveal presence of certain causative mutations.

Treatment

The treatment should always include healthy diet and a lot of physical exercise. In this case, however, it is not enough as the body suffers from a genetically caused tendency to cholesterol accumulation. Hypolipidemic drugs (especially statins) are fully indicated.

 

In the most serious cases when pharmacotherapy is ineffective, the doctors may indicate a special method resembling dialysis to temporary filtrate the cholesterol molecules.