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Who is at risk?

Why your family history is important

When, Where and How to get tested.

Managing FH

Medications for FH

Seeking Specialist Consultation

For more information, call the toll free number below:

1-800-982-8242 Extension 4816


Addressing Familial Hypercholesterolemia

What is FH?

FH or Familial Hypercholesterolemia is an inherited disorder which causes cholesterol levels to be elevated. One in every 250-500 people have FH. People with this inherited disorder lack LDL (low density lipoproteins) receptors or molecules which can identify cholesterol.

LDL receptors on the cell membrane take cholesterol into the cell and break it down, so that the HDL (high density lipoproteins) can carry the cholesterol to the liver to be excreted from the body

People with FH have fewer receptors on their cell membranes and therefore have elevated cholesterol in their blood, because the cholesterol cannot get into the cell to be carried to the liver. Thus, fewer receptors lead to elevated cholesterol which causes plaque formation and coronary artery disease. The elevated cholesterol levels in the blood cause an increased risk of early death secondary to heart disease. For example, people with FH have an increased chance of having a heart attack at an extremely early age. Even without other risk factors such as obesity, men may have a heart attack when they are 40-55 years old and women may have a heart attack when they are 50-65 years old.

Normal total cholesterol levels:
Children 112-200 mg/dl
Adults 122-218 mg/dl

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Who is at risk for FH?

Since this condition is an autosomal (genetically) dominant disorder anyone with a family history of severely elevated cholesterol or heart disease should be tested and all immediate relatives of people with FH should be tested. Immediate relatives, (parents, brothers, sisters, etc.) have a 50% chance of having FH.

Why is your family history important?

Your family medical history of heart disease is important, because it helps to determine whether or not you may have FH.

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When should you get tested for FH?

If you have a strong family history of severely elevated cholesterol or premature coronary artery disease you should be tested. Children can be tested as early as two years of age.

Where & How should you get tested for FH?

Discuss your family medical history with your health care provider. He or she will order a 12 hour fasting lipid panel which is a simple blood test.

Management of FH:

  1. a diet low in saturated fat
  2. cholesterol lowering medications
  3. daily exercise and weight control/reduction
  4. smoking cessation

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Management of FH is important to reduce the risks of developing complications such as:

  •  xanthomas or yellow deposits of lipid in the skin or any where in the body.
  •  thickening or the Achilles tendon located n the back of the heel
  •  atherosclerosis or thickening of the arteries secondary to plaque formation from excess cholesterol (also know as Coronary Artery Disease-CAD) CAD is the leading cause of death in the United States
  •  premature death (death prior to 55 years of age)

Medications for FH


When should you seek consultation from a specialist?

Adults should see a specialist if their total fasting cholesterol is greater than 350 or a LDL of 250 and children should see a specialist if their total fasting cholesterol is greater than 270 or a LDL of 200.

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What does CARDIAC-FH Project offer?

The Lipid Clinic at West Virginia University offers further blood testing, LDL receptor analysis, and detailed family history of heart disease to identify other family members with FH. With the help of the West Virginia Bureau for Public Health, we hope to establish a state-wide registry of patients with FH to help identify other family members. We hope to identify other family members, so that we can also help them with treatment before they experience a life threatening cardiac event. The CARDIAC-FH Project offers a free web site and a toll free number to address further questions you may have.

William A. Neal, M.D.
Directory, Preventive Cardiology

Radine A. Powley, MSN, CPNP
Certified Pediatric Nurse Practitioner
Project Coordinator

For more information, call: (304) 293-4224

Cardiac Project Locations:

Robert C. Byrd Health Sciences Center
Morgantown, WV
Phone: 304-598-6833

Marshall University Medical Center
Huntington, WV
Phone: 304-691-1303

West Virginia School of Osteopathic Medicine
Lewisburg, WV
Phone: 304-645-3220

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Division of Health Promotion (HPCD)
Office of Epidemiology and Health Promotion (OCHSHP)
Bureau for Public Health (BPH)
Department of Health and Human Resources (DHHR)
State of West Virginia (WV)

This page was last updated 03/2010
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