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: LDLR, APOB, or PCSK9. FH is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.
One of the primary symptoms of FH is elevated cholesterol levels, specifically high levels of low-density lipoprotein (LDL) cholesterol, often referred to as "bad" cholesterol. This occurs due to the impaired ability of the liver to remove LDL cholesterol from the bloodstream. As a result, individuals with FH have a significantly increased risk of developing atherosclerosis, which is the buildup of fatty deposits in the arteries.
Early signs of FH can manifest as visible physical symptoms, such as xanthomas and xanthelasmas. Xanthomas are yellowish, fatty deposits that accumulate under the skin, typically around the eyes, elbows, knees, and buttocks. Xanthelasmas are similar deposits that specifically appear as yellowish patches on the eyelids. These visible signs can often be an indicator of FH, especially in younger individuals.
Another common symptom of FH is the development of premature cardiovascular disease (CVD). Due to the persistently high levels of LDL cholesterol, individuals with FH are at a significantly higher risk of experiencing heart attacks, strokes, and other cardiovascular complications at a younger age compared to the general population. The severity of CVD can vary among affected individuals, but it is generally more aggressive and occurs earlier in life.
It is important to note that not all individuals with FH exhibit visible physical symptoms or experience early cardiovascular events. Some individuals may have a milder form of the condition, known as heterozygous FH, which can go undiagnosed until later in life. In contrast, individuals with homozygous FH, where both copies of the gene are mutated, tend to have more severe symptoms and are at an even higher risk of cardiovascular complications.
Other potential symptoms and complications of FH include:
If you suspect that you or a family member may have FH, it is crucial to consult with a healthcare professional for proper diagnosis and management. Early detection and appropriate treatment can significantly reduce the risk of cardiovascular complications associated with FH.