Familial Hypercholesterolemia

What is familial hypercholesterolemia?

Familial hypercholesterolemia, or FH, is a genetic disorder that makes the body unable to remove low density lipoprotein (LDL), or “bad” cholesterol, from the blood. This bad cholesterol can then build up and cause the arteries to narrow from atherosclerosis at an early age. This raises the risk for heart disease and heart attack.

How does FH affect families?

Familial hypercholesterolemia is a defect on chromosome 19. It is inherited as an autosomal dominant trait, which means that you only need to get the abnormal gene from one parent to inherit familial hypercholesterolemia. In the case that an individual inherits two copies - one from each parent - the amount of LDL cholesterol is more severe.

What are the symptoms?

Early in life, there may be no symptoms.

Possible symptoms include:

• Fatty skin deposits (xanthomas) around the hands, elbows, knees, ankles and around the cornea of the eye
• Cholesterol deposits in the eyelids (xanthelasmas)
• Chest pain (angina) or other signs of coronary artery disease; may be present at a young age
• Cramping of one or both calves when walking
• Sores on the toes that do not heal
• Sudden stroke-like symptoms such as trouble speaking, drooping on one side of the face, weakness of an arm or leg, and loss of balance.

What treatment is there for FH?

Lifestyle changes:

• Eat less beef, chicken, pork, and lamb
• Replace full-fat dairy products with low-fat products
• Eliminate trans fats from the diet

Medication:

• Lovastatin (Mevacor)
• Pravastatin (Pravachol)
• Simvastatin (Zocor)
• Fluvastatin (Lescol)
• Atorvastatin (Lipitor)
• Pitivastatin (Livalo)
• Rosuvastatin (Crestor)

Resources

Genetics Home Reference - www.ghr.nlm.nih.gov

The American Heart Association - www.heart.org

NIH- National Human Genome Research Institute - www.genome.gov

Familial Hypercholesterolemia: The Common, Inherited Cause of Heart Disease Rarely Talked About --  a blog post from the National Society of Genetic Counselors - www.nsgc.org 

FH Foundation - a patient-centered non-profit dedicated to research, advocacy, and education of all forms of familial hypercholesterolemia -  thefhfoundation.org