Patient Information
Familial Hypoalphalipoproteinemia

James A. Edwards

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Alternate Names:

• low high-density lipoprotein (HDL) cholesterol
• decreased "good" cholesterol

Definition:
Familial hypoalphalipoproteinemia is a condition where the body produces decreased amounts of HDL-cholesterol or "good" cholesterol. Low HDL-cholesterol can be defined as a value less than 35 (< 35 mg/dl) for men and < 45 mg/dL for women.

What is going on in the body?
HDL-cholesterol is produced by the liver and the intestines. HDL-cholesterol helps our bodies by moving free cholesterol, found in body tissues or in the blood, to the liver for removal. In some people either the liver, the intestines or both do not make enough of this "good" cholesterol.

What are the signs and symptoms of the disease?
There are usually no observable signs or symptoms that a person produces too little HDL-cholesterol.

What are the causes and risks of the disease?
The cause of this disorder is genetic, in other words, we inherit this disease from either our mother or father. People in the general population have a 3-5% chance of having low HDL-cholesterol. People with this inherited disorder are at much greater risk for developing coronary artery disease (CAD). CAD is the term used to describe atherosclerosis or "clogging" of the arteries that supply blood and nutrients to the heart. Patients with CAD have a greater risk of heart attack, stroke and death than those patients who do not have CAD.

What can be done to prevent the disease?
Because the disorder is genetically linked, there is nothing that can be done to prevent inheriting this disorder.

How is the disease diagnosed?
A doctor may diagnose this disorder after seeing a low HDL value during a routine blood cholesterol check. This test might be repeated to make certain that the lab value is actually low. Your doctor may also ask you questions regarding your family history. Because this disorder is inherited there may be others in the family who have this condition.

What are the long-term effects?
HDL-cholesterol acts as the body's "good" cholesterol by moving free cholesterol to the liver to get this free cholesterol out of the body. When patients have low amounts of HDL-cholesterol they are not able to remove free cholesterol from the body tissues and blood as well as normal. Over a long period of time these patients have more and more LDL-cholesterol ("bad cholesterol") build-up inside their arteries. This is called atherosclerosis or "clogging" of the arteries. People with increased "clogging" of the arteries are at much greater risk for experience heart attacks and strokes.

What are the risks to others?
There are no risks to others when a person has low HDL-cholesterol.

What are the treatments?
There are both non-drug and drug treatments for people with low HDL-cholesterol. Some actually raise the level of HDL-cholesterol, while others decrease the amount of LDL-cholesterol. These include:

• lifestyle changes
  • eating low-cholesterol foods like fish and vegetables
  • exercising regularly
  • stopping smoking
• niacin
• fibrates (for example, gemfibrozil or fenofibrate)
• HMG CoA reductase inhibitors (for example, pravastatin, fluvastatin, cerivastatin, lovastatin, simvastatin, atorvastatin)

What are the side effects of the treatments?
Each of the above drug therapies has possible side-effects when taken to treat low HDL-cholesterol. Because there is no cure for this disorder it is likely that drug therapy will continue for the rest of the patient's life. Listed below are the most common side-effects for the treatments that raise HDL-cholesterol levels:

• niacin: flushing sensation on the chest and neck, itching
• fibrates: diarrhea, nausea, muscle aches
• HMG CoA reductase inhibitors: diarrhea, muscle aches. Note: regular liver function tests are advised when taking these drugs for cholesterol.

What happens after treatment?
When your doctor finds the right treatment for you (for example, a combination of lifestyle changes and drug therapy), your HDL-cholesterol level should increase. HDL-cholesterol level should be equal to or greater than 35 mg/dL for men and 45 mg/dL for women. Then patients will be at a decreased risk for heart attack or stroke.

How is the disease monitored?
Periodic blood cholesterol tests that measure HDL-cholesterol levels. The goal of therapy is an HDL-cholesterol level equal to or greater than 35 mg/dL for men and 45 mg/dL for women.

References

Lipid Disorders: Pathogenesis, Lipid Metabolism, Detection and Evaluation. In: McKenney JM and Hawkins DW, eds. Handbook on the Management of Lipid Disorders. 1st ed. Springfield, NJ: National Pharmacy Cholesterol Council; 1995:12-57.

Lipid Modifying Drugs. In: McKenney JM and Hawkins DW, eds. Handbook on the Management of Lipid Disorders. 1st ed. Springfield, NJ: National Pharmacy Cholesterol Council; 1995:89-134.

Zema MJ. Gemfibrozil, Nicotinic Acid and Combination Therapy in Patients with Isolated Hypoalphalipoproteinemia: A Randomized, Open-Label, Crossover Study. J Am Coll Cardiol 2000;35(3):640-646.

Kwiterovich Jr PO. The Antiatherogenic Role of High-Density Lipoprotein Cholesterol. Am J Cardiol 1998;82:13Q-21Q.

Rader DJ. Pathophysiology and Management of Low High-Density Lipoprotein Cholesterol. Am J Cardiol 1999;83:22F-24F

Harper CR and Jacobson TA. New Perspectives on the Management of Low Levels of High-Density Lipoprotein Cholesterol. Arch Intern Med 1999;159:1049-1057.

American Heart Association, Scientific Sessions 2001. http://www.scientificsessions.org/

National Heart, Lung, and Blood Institute, National Institutes of Health. Live Healthier, Live Longer: Cholesterol Counts for Everyone. http://rover.nhlbi.nih.gov/chd/