Familial hypercholesterolemia is an inherited genetic condition that is present from birth (congenital) and causes high levels of low density lipoprotein (LDL), sometimes known as "bad cholesterol." These high levels of LDL cholesterol occur due to a genetic mutation that prevents the body from removing LDL cholesterol from the blood. These increased levels of LDL cholesterol can lead to a hardening and narrowing of the arteries, a condition known as atherosclerosis that can cause a heart attack/stroke /sudden death in patients at a young age.
Familial hypercholesterolemia is a progressive disease and symptoms may not be present in the beginning. As the condition progresses, patients may notice the following symptoms:
- Chest pain (angina)
- Coronary artery disease
- Fatty deposits around the body (xanthomas)
- Cholesterol deposits on the eyelid (xanthelasmas)
- Sores on the toes that do not heal
Other symptoms are similar to those of a sudden stroke and may include:
- Difficulty speaking
- Weakness in one arm or leg
- Facial drooping on one side
- Loss of balance
Causes and Risk Factors
Familial hypercholesterolemia is most often caused by a defect in 3 different genes (LDL-receptor gene, PCSK 9 gene and Apo B gene). Patients with a family history of the condition or of early heart attacks are at an increased risk of having familial hypercholesterolemia. Those with a partial genetic defect (Heterozygous FH or HeFH) typically experience heart attacks between the ages of 40 and 50 years of age (men) or between 50 and 60 years of age (women).Those with a complete genetic defect (homozygous FH or HoFH) can actually have heart attacks in their teens or twenties.
Diagnosis of familial hypercholesterolemia will generally begin with the physician taking the patient's medical history and performing a physical exam. During the physical exam, the physician will look for fatty deposits on the body and cholesterol deposits around the eyes, on the elbows knees, ankles and hands. Patients are also asked if they have experienced any symptoms suggestive of blocked arteries.
After the physical exam, the physician may order blood tests to determine the levels of cholesterol in the blood. Genetic testing may also be performed in order to definitively determine the cause of the high cholesterol levels and to detect the specific gene that is defective.
The goal of treatment for familial hypercholesterolemia is to reduce the risk of hardening arteries. Those with a partially defective gene (HeFH) may be managed through lifestyle changes and medications to lower cholesterol, known as statin medications. Lifestyle changes may include reducing or eliminating saturated /Trans fats from the patient's diet, exercising regularly, maintaining a healthy weight and avoiding smoking.
Statin medications may also be used to help lower cholesterol. These medications include lovastatin (Mevacor), pravastatin (Pravachol), simvastatin (Zocor), fluvastatin (Lescol), atorvastatin (Lipitor), pitivastatin (Livalo) and rosuvastatin (Crestor).
For patients with a complete genetic defect (HoFH), LDL-apheresis may be needed. This treatment involves removing blood from the body and using special filters to remove the LDL cholesterol from the blood before returning it back to the body.LDL-Apheresis may be required every 1-2 weeks.
The knowledgeable and highly trained staff at the Cedars-Sinai Cardiogenetics Program will work with each patient to determine the best treatment.