If you or your partner has familial hypercholesterolemia (FH), there is a 50% chance that you or your partner may have passed the disorder on to your children. By the time they are toddlers, children with familial hypercholesterolemia may already have cholesterol deposits in their arteries. If left undiagnosed and untreated, the disorder could lead to early heart attacks and strokes. Consequently, it is important to keep an eye out for possible FH signs and have your children tested as soon as possible in order to start the necessary treatment.
When Should I Have my Children Tested?
The National Heart, Lung, and Blood Institute (NHLBI) and the American Academy of Pediatrics (AAP) recommend universal cholesterol testing for all children between the ages of 9 and 11 (and again between the ages of 17 and 21). If there is a family history of heart disease or FH, it is recommended to check a child’s cholesterol level as early as 2 years old. FH can be diagnosed based on a simple blood test and a family history. FH is treatable, so early diagnosis and treatment can be life saving. When to start treatment is a decision every family needs to make with the advice of their child’s doctor, but it’s never too early for a heart healthy lifestyle.
Two Types of FH
There are two types of familial hypercholesterolemia: heterozygous FH, which occurs when a child inherits the disorder from one parent, and homozygous FH, which occurs when a child inherits the condition from both parents. Homozygous FH, unlike heterozygous FH, is usually more difficult to treat, is highly aggressive, and often causes vascular problems earlier, even before a child reaches adolescence. If your child has homozygous FH, detecting the condition early could lead to earlier, more effective treatment and save his or her life.
Possible FH Signs
There are several possible FH signs your children may display if they have FH. Most people with FH do not show outward signs of the disorder. A diagnosis can be made based on LDL levels measured by a simple blood test and family history. However, some people do have visible signs of FH. In some cases, signs of the disorder may be mistaken for medical problems other than familial hypercholesterolemia. Consequently, it is important for parents who have the condition to remain on the lookout for possible FH signs in their children. These signsmay include:
LDL cholesterol readings of 160 mg/dL or higher
- Family history of cardiovascular disease
- Xanthomas – Whitish or yellowish cholesterol deposits on the knees, elbows, or the achilles tendon
- Xanthalasmas – Whitish or yellowish deposits around the eyes
- Corneal arcus – A grey “ring” around the cornea
- Circulation problems in the extremities
- Chronic chest pain unrelated to other medical conditions
If your child displays any of these signs, it may indicate the presence of familial hypercholesterolemia. If you notice possible FH signs in your children, having them tested for the condition should be a top priority. The American College of Cardiology cites that only 10% of cardiologists are “very or extremely confident” in understanding the condition. Therefore, when making an appointment for testing, be sure to choose an FH Specialist who has experience diagnosing and treating the disorder.
Living With FH
Familial hypercholesterolemia is a genetic condition that does not go away on its own. However, when the disorder is diagnosed early, proper treatment can help people live longer, healthier lives. Treatments for the two types of FH begin with a heart healthy diet and almost always involve cholesterol-lowering medications. After determining what type of FH is present and how advanced it is, an FH Specialist will discuss treatment options. You can find an FH Specialist in your area here: https://familyheart.org/find-fh-specialist/.
Help the Family Heart Foundation
the Family Heart Foundation promotes awareness of familial hypercholesterolemia through advocacy, research, and education. As a non-profit organization, we welcome the financial support and volunteerism of organizations and individuals interested in improving awareness of the condition. With your help, we can raise the diagnosis rate for familial hypercholesterolemia and empower those who have the condition with support and information.
For more information about possible FH signs and donating to the Family Heart Foundation, give us a call today at (626) 465-1234, or use our contact form.