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:
- a diet low in saturated fat
- cholesterol lowering medications
- daily exercise and weight control/reduction
- 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
Baycol
Lescol
Lipitor
Mevacor
Pravachol
Zocor
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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