What is Familial Hypercholesterolemia

Familial Hypercholesterolemia (FH) is a genetic disorder characterized by high levels of cholesterol in the blood. It is caused by a mutation in one of three genes responsible for regulating cholesterol metabolism. This condition is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to their children.

FH leads to significantly elevated levels of low-density lipoprotein (LDL) cholesterol, commonly known as "bad" cholesterol. This excess LDL cholesterol can accumulate in the arteries, forming plaques that narrow and harden the blood vessels. As a result, individuals with FH are at a much higher risk of developing cardiovascular diseases, such as heart attacks and strokes, at an early age.

Early diagnosis and treatment are crucial in managing FH. Lifestyle modifications, including a healthy diet, regular exercise, and avoidance of smoking, are recommended. Additionally, medications such as statins may be prescribed to lower cholesterol levels. In some cases, lipid apheresis (a procedure that filters cholesterol from the blood) or gene therapy may be considered.

If you suspect you or a family member may have FH, it is important to consult with a healthcare professional for proper evaluation, diagnosis, and management.