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. Heart attacks for homozygous persons often occur in their 30s.
High cholesterol is often a hidden condition, that is, you don’t know you have it until you go in for your annual checkup and have your levels tested or other symptoms (angina, heart attack) present. Fortunately, there are some external signals for familial hypercholesterolemia that may lead to early diagnosis and treatment. These include:
• Xanthomas – these are little “fatty, cholesterol-rich skin deposits” (NHLBI). I actually went out and did a Google search and these look like bumps or moles or bubbles coming out from the skin. These are normally found around tendons, elbows, buttocks, and knees. Xanthomas even form around the cornea in your eyes.
• Xanthelasmas – Similar to xanthomas, these are also cholesterol deposits on the skin. Unlike xanthomas, xanthelasmas are found on the eyelids.
In addition to these external skin conditions, other symptoms of familial hypercholesterolemia may include angina (chest pains) and obesity.
Who should worry about this condition? Obviously, if anyone in your family has ever been diagnosed with this, you should bring it to the attention of your doctor and get tested. A family history of premature heart disease or heart attacks may be a warning sign for familial hypercholesterolemia. In addition, if either (or both) parents have a history of abnormally high cholesterol, you may be at risk.
If you think that you may have this disorder, it’s important that you seek the advice of a physician as soon as possible. Since the body is unable to remove LDL cholesterol, diet and exercise alone will not “cure” familial hypercholesterolemia and lower your LDL levels to normal. Although lifestyle changes will help, persons with this condition will need additional medical intervention to keep cholesterol levels in check and prevent heart disease.
Sources:
Familial hypercholesterolemia, National Heart Lung and Blood Institute, 12 Sept 2008, http://www.nlm.nih.gov/medlineplus/ency/article/000392.htm
Learning About Familial Hypercholesterolemia, National Human Genome Research Institute, http://www.genome.gov/25520184