Genetic diseases: Familial Hypercholesterolemia

Definition

In today's post about genetic diseases we will talk about familial hypercholesterolemia. It is a hereditary disease which affects how the body processes cholesterol, preventing it from getting rid of the type of cholesterol that can build up in the arteries and cause heart disease, leading to an increased risk of heart attacks at an early age.

Causes

The main defect in familial hypercholesterolemia is caused by a mutation in the gene that encodes the receptors for low-density lipoproteins (LDL—known as bad cholesterol), which are responsible for removing cholesterol from the blood in the liver. Having fewer receptors, either partial or total, significantly increases LDL cholesterol in the blood, promoting its deposit in the arteries and the development of plaque that can narrow them, leading to atherosclerosis.

Genetics of the disease

Genetically, we can classify the disease according to the affected genes. We inherit two genes, one from the father and one from the mother. If only one of the genes is affected, we speak of heterozygous familial hypercholesterolemia; in this case, the disease is milder. If a person inherits both altered genes (one from the father and one from the mother), we speak of homozygous familial hypercholesterolemia, which is a more severe variant. These children have a high risk of suffering coronary complications in childhood.

Symptoms

Familial hypercholesterolemia, by producing excess cholesterol, sometimes causes it to be deposited in certain parts of the skin such as hands, elbows, knees, in some tendons and around the iris of the eyes.

Diagnosis

To diagnose familial hypercholesterolemia, a blood test begins with a measure of total blood cholesterol. If this is uncertain or if a family member already has the disease, genetic testing will help confirm the diagnosis and reveal the defective gene, thereby detecting the presence of mutations in the LDL receptor genes that cause the disorder. www.genotica.com We have tests that study the disease and related mutations, such as NGS-SEQ+CNVs – FAMILIAR HYPERCHOLESTEROLEMIA from Lorgen.

Treatment

Doctors recommend lifestyle changes, such as physical activity and a low-fat diet. In some cases, medications to lower LDL cholesterol levels may also be necessary.