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What is Familial Hypercholesterolemia?

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Familial hypercholesterolemia – what a tongue twister! Just reading the name of this rare condition made my eyes tired. While the name may be a mouthful, it’s easy to decipher this condition if you break it down:

• familial – family, inherited or passed down from family member to family member
• hyper – think over-active or hyperactive child
• cholesterol - blood levels of low-density lipoprotein (LDL – “bad”) and high-density lipoprotein (HDL – “good”) cholesterol

• emia - abnormal condition relating to the blood

Looking at it from this perspective, familial hypercholesterolemia is simply an inherited, abnormal blood condition where your LDL levels are too high. This definition may be an oversimplification but it gives you the broad picture of the condition.

The result of a gene defect (chromosome 19), familial hypercholesterolemia is passed from parent to child. If you have a defective chromosome 19, there is a 50 percent chance (for each child) that you will pass the defective gene on to the next generation.

The condition is quite serious because the condition renders the person unable to process and remove LDL (bad) cholesterol from their blood. This process of accumulating excess LDL cholesterol begins at birth so it’s easy to see that the end result can be quite catastrophic, often resulting in very early atherosclerosis, heart disease and even premature heart attack or death.

Persons with one defective chromosome 19 (heterozygous) often see blood cholesterol levels in excess of 300md/dL. Since we obtain a chromosome from each parent, it’s possible to inherit two defective chromosome 19 genes. If you’re unlucky enough to have inherited a defective chromosome 19 from both parents (homozygous) then your blood cholesterol levels could be consistently above 600mg/dL.

Familial hypercholesterolemia often hits men much worse. It’s not uncommon to see men with familial hypercholesterolemia suffer a heart attack in their 40s. Women fare somewhat better with the results not being fully felt until their 50s. For those with two defective chromosome 19 genes, the outlook is not as good.

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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.

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