Heterozygous Familial Hypercholesterolemia.

Abstract

Familial hypercholesterolemia (FH) is a genetic condition that causes high low-density lipoprotein (LDL) cholesterol (sometimes referred to as bad cholesterol) from birth. FH means high cholesterol that runs in a family. FH is caused by specific DNA changes that are passed on from parents to their children. It is not caused by lifestyle factors such as a high-fat diet or lack of exercise. There are 2 main types of FH, homozygous and heterozygous, that have different symptoms, risks, and treatments. In this Cardiology Patient Page, we focus on heterozygous FH, which we will call FH. FH affects 1 in 200 to 300 people. FH is usually inherited from 1 parent in an autosomal dominant pattern. This means a parent with FH has a 50% chance of passing it on to each child, regardless of sex. This also means all first-degree relatives (parents, siblings, and children) of a person with FH have a 50% chance to have FH, and a 50% chance to not have FH. Healthcare providers and the general public lack awareness about FH. Therefore, it is underdiagnosed and undertreated. A person with FH who is not treated is 20 times more likely to develop coronary artery disease than a person without FH. Coronary artery disease can lead to heart attacks and other major cardiovascular diseases, including stroke and sudden cardiac death. However, early diagnosis with universal lipid screening, cascade screening in families, and appropriate treatment with statins and other medications can reduce this risk. Most people with FH will not have any symptoms until complications of untreated high cholesterol arise years later. Rarely, patients may have visible signs of extremely high cholesterol, such as a corneal arcus or tendon xanthomas. A corneal arcus is a yellowish ring along the edge of the colored part of one or both …