While its well known that poor diet can lead to abnormal cholesterol levels, for many people, the problem is inherited. And for some children who inherit the gene that leads to elevated LDL cholesterol levels, statins can be the answer.
Familial hypercholesterolemia (FH) is an inherited condition affecting 1 in 500 people worldwide. The condition causes too much LDL cholesterol and fat to build up in the body. When this buildup is in the arteries of the heart, it can lead to a heart attack. People with this condition can develop heart attacks at a very early age - men in their 30s and women in their 40s.
While this condition is relatively common, it is possible that only 10 percent of cases have been formally diagnosed.
FH is caused by an abnormal LDL receptor that prevents the liver from removing cholesterol from the blood. It is passed down in families in two ways: heterozygous FH, inherited from one parent; and homozygous FH, when the gene is inherited from both parents. Those with homozygous FH have a high risk of dying young if not diagnosed before a heart attack, which can occur even in their 20s. And a diagnosis of FH means one of the parents definitely also is affected, along with possibly other family members.
Symptoms that may precede a heart attack include chest pain, recurrent tendonitis or arthralgias (joint pain). Physical signs also include xanthomas - yellow-appearing bumps (cholesterol deposits) seen under the skin, most commonly at the heel of the foot, around knee or elbow and around the eyes, and corneal arcus - a gray ring seen along periphery of the cornea.
But it's possible to have FH and not exhibit these symptoms.
Testing for FH begins with a cholesterol screen. If an adult has a total cholesterol level above 310, or child's level is over 230 with family history of early heart attacks, then further testing for FH should be done. Genetic testing is available for diagnosing FH and its most common causes.
Treatment of FH begins most importantly with lifestyle changes. An appointment with a registered dietitian will help you learn how to reduce your daily cholesterol and saturated fat intake and increase soluble fiber. A goal of at least one hour of physical activity daily is important. A reduction in sedentary time is also necessary.
Cholesterol-lowering medications, such as statins, will likely be necessary, even in children. However, statins are usually not started until after 10 years old because of the possibility of adverse effects to liver and muscle. Those with homozygous FH may also require apheresis, in which LDL is filtered out from blood.
In addition, a consultation with a cardiologist is recommended to monitor narrowing of the large arteries of the heart.
Thus, if you or someone in your family has had very difficult to treat high cholesterol levels, heart attacks at a young age, yellow bumps under the skin around the eyelids/skin/tendons or consistent chest pain that has not improved, then please consider having an evaluation by an adult or pediatric endocrinologist for familial hypercholesterolemia. This could possibly prevent a serious heart attack in your family.
- Amy Jean is a pediatric endocrinologist with the Wheeling Hospital Center for Pediatrics.