An Introduction to Familial Hypercholesterolemia
Written by Lahari Chebrolu
Familial hyperchoelsterolemia, or FH for short, is a genetic disorder that causes LDL cholesterol to not be recycled properly. LDL refers to low-density lipoprotein, also known as the “bad cholesterol”. The main function of LDL is to transport cholesterol to cells throughout the body, for different purposes. LDL receptors on the surface of cells aid in this process, by taking circulating LDLs in the bloodstream and carrying them into the cell. This eventually decreases LDL levels in the blood, as they are moved inside the cell. Familial hypercholesteroemia is caused by a mutation in the LDL receptor gene, resulting in higher LDL levels.
Familial hypercholesterolemia can be inherited in two types: heterozygous and homozygous. Heterozygous FH is when the defective gene is passed from only parent, whereas homozygous FH is when the gene is passed from both parents. Homozygous FH tends to be a lot more rare and potent, leading to heart disease in early childhood.
Both types of FH lead to increasing LDL levels, which result in fatty deposits in blood vessels, blocking blood flow from arteries, overtime. It can also lead to other problems such as heart attacks, coronary artery disease, strokes, and atherosclerosis. To lower the severity of FH, lifestyle changes can be made. Regular exercise and a healthy diet consisting of unsaturated fats, such as fish, avocados, and nuts, are all options. Medication knows as statins can also be taken, which decrease LDL levels. Some example of statin medications include fluvastatin, lovastatin, and atorvastatin.
Overall, familial hypercholesterolemia is a condition that can be inherited or passed down. But, staying healthy by exercising and maintaining a healthy diet will decrease its severity.