What is Familial Hypercholesterolemia (FH)?
FH is an inherited disorder that causes very high cholesterol levels in the blood and greatly increases the chance of having a heart attack early in life.
Heart attacks usually occur in men when they are 40-55 years old and in women when they are 50-65 years old. Unfortunately, they can sometimes occur when people are in their mid-twenties. The first case of FH was described more than 100 years ago and the characteristics of FH passing from generation to generation was understood in the late 1930s.
What Causes FH?
Cholesterol is removed from the blood by the liver using Low Density Lipoprotein (LDL) receptors. Each person has two genes that are responsible for making the LDL receptors: one received from your father and one received from your mother. In a person with FH, an abnormal gene was passed on from one parent who has FH and a normal gene was passed on from the other parent or from both parents. Therefore, the number of the LDL receptors are absent or do not work properly and the other may be normal. Because half of the receptors do not remove the cholesterol normally, cholesterol levels increase in the blood. This results in damage to blood vessels, blockage of arteries and heart attacks at an early age.
How is FH treated?
FH is treated using diet, medication and, in some cases, LDL Apheresis. Current national guidelines by experts through the National Cholesterol Education Program (NCEP) recommend that patients with heart and vascular disease have their LDL cholesterol (LDL-C) levels reduced below 70 mg/dL for maximum benefit and protection against future cardiac events. In addition, the target of treatment for patients without heart and vascular disease is 100-130 mg/dL depending on the presence of other cardiac risk factors.
• In patients whose LDL levels do not respond to conventional dietary and medication regimens to meet the above standards - LDL Apheresis is recommended.
What is LDL Apheresis?
Through a needle in the arm, the patient’s blood iswithdrawn and runs through the Apheresis system. The instrument separates components (cells,plasma) of the whole blood and removes only the LDL cholesterol through afilter (column). The rest of the plasma components and the cells are returnedto the patient through a needle in the opposite arm. Placement of needles inthe arms and the momentary discomfort of a needle stick is the most common“side effect” of the procedure.
Is the LDL Apheresis treatment effective?
Studies have shown that the apheresis system will lower LDL cholesterol (LDL-C) approximately 70-83% after a single treatment. The liver will continue to produce LDL-C following the treatment and it will take approximately 2 weeks to regain the baseline level. In order to maintain lowest possible LDL levels over time, patients will typically require one treatment every 1-2 weeks. By combining apheresis with diet and medication, LDL cholesterol levels can be effectively maintained to maximize the benefit and protect against future cardiac events.
Does Insurance payfor treatments?
Most insurance policies including Medicare cover the cost of these treatments. Insurance precertification is done prior to patients starting this treatment regimen.
What do the numbers mean?
Total Cholesterol is the number you hear most often and is referred to as the “cholesterol level." It includes the good and bad kinds of cholesterol. Ideally, this number will be less than 200mg/dL.
HDL cholesterol is the "good" cholesterol. It's carried on high-density lipoproteins. Having more of it means you're more likely to have a lower risk of coronary heart disease.
LDL cholesterol is the "bad" cholesterol. It's carried on low-density lipoproteins. Increased levels put you at risk of coronary heart disease.
Triglycerides are another fatty substance in the blood that affects your risk for heart disease. Most fat in food, as well as in your body, is present in the form of triglycerides. High levels are a matter of concern and are linked to the risk of heart disease and other complications.
Updated: 1/18/12