Familial Hypercholesterolemia (FH)
Familial hypercholesterolemia is a genetic condition that causes high levels of cholesterol in the blood. This leads to a gradual buildup of fatty material in your coronary arties (known as atheroma). Left untreated, FH increases the risk of getting heart and circulatory disease at an early age.
CausesAn inherited condition, familial hypercholesterolemia is caused by faulty genes, more specifically, a mutation in the gene for the LDL cholesterol receptor. It is inherited from one parent in most instances, and in rare cases, from both.
SymptomsHaving high levels of cholesterol often shows no outward symptoms.
Some of the signs and symptoms to pay attention to are:
- chest pain with physical activity
- fatty deposits often found in tendons and on the elbows, buttocks, and knees (xanthomas)
- cholesterol deposits around the eyelids (xanthelasmas)
- gray-white cholesterol deposits around the corneas (corneal arcus)
Diagnosis Your doctor will conduct a physical exam to identify any fatty deposits or lesions as a result of FH. A blood test will also be conducted to determine your cholesterol levels. Discovery through molecular diagnosis, genetic diagnosis or genetic testing is also possible.
TreatmentCholesterol levels can be managed with lifestyle changes such as a healthy diet, plenty of exercise, and maintaining a healthy weight. While there isn’t a cure for familial hypercholesterolemia, it can be successfully treated with medication such as a statin.