Signs and Symptoms of Familial Hypercholesterolemia

What is pure hypercholesterolemia, and how does it affect my family? Familial hypercholesterolemia affects every 1 in 250 people worldwide. It’s an inherited, epigenetic (inherited, but without altering the DNA) condition characterized by the liver’s inability to effectively recycle and regulate cholesterol. As a result, persons with FH tend to have extremely high levels of cholesterol, which typically require medication to manage. If one of your parents has the condition, there’s a 50 percent chance that you have it as well. What are the actual signs and symptoms of familial hypercholesterolemia, and how can you tell if you’re at risk?

Unfortunately, many people manifest no symptoms at all. If you’re at risk for the disease, you should visit a lipidologist right away. Potential signs of FH are having LDL cholesterol above 190 mg/dL in adults and above 160 mg/dL in children, as well as a family history of high cholesterol and heart disease (heart attacks, atherosclerosis, etc). If you do experience symptoms, such as chest pain or little bumps on the skin (usually appearing on the hands, elbows, knees or around the eyes), this may indicate that the condition has already advanced significantly, so visit a lipid specialist immediately and find out if you have a cholesterol issue.

If you have a family history of FH, it’s critical that you get your child checked out at an early age, even if he or she isn’t exhibiting any symptoms of familial hypercholesterolemia. FH is an inherited condition, and parents are about 50 percent likely to pass the condition along to their children. Ideally, you’ll want your child to have his or her cholesterol measured before the age of 10 (but after the age of 2). The sooner you detect it, the easier it will be for you to manage the disorder.

Learning that you have familial hypercholesterolemia can be a scary thing, but it doesn’t need to destroy your quality of life. In fact, individuals with FH can lead full, healthy lives free from pain, sickness and heart disease, but the trick is knowing how to manage the condition. Your doctor will likely prescribe medication to keep your cholesterol under control, and you will also need to make some simple but important lifestyle changes. Stick to healthy whole foods low in saturated and trans fats, exercise at least 30 minutes a day, and if you smoke, try to kick the habit as quickly as possible.

If you find the whole situation confusing, or if you would like to learn more about the signs and symptoms of familial hypercholesterolemia, contact the Family Heart Foundation today. We would love to hear from you, and we’ll do what we can to help you better make sense of your condition. Remember that we all have to be proactive about maintaining our health, and just about everybody has some kind of condition or sensitivity. FH isn’t a death sentence; it’s a challenge that is manageable.