People with familial hypercholesterolemia have elevated levels of low-density lipoprotein (LDL) cholesterol — the so-called bad kind of cholesterol that builds up in blood vessels and can lead to blood clots and heart attacks — from the time they’re born. For these people, LDL levels can get even higher as they age. Left untreated, familial hypercholesterolemia often leads to hardening of the arteries, cardiovascular disease, and events like heart attacks and strokes long before people reach old age. While the condition can’t be cured, early diagnosis and treatment can help prevent these complications. People have two copies of chromosome 19, one inherited from each parent. Individuals who inherit a copy of the gene mutation that causes familial hypercholesterolemia from just one parent have a milder form of the condition known as heterozygous familial hypercholesterolemia. These physical signs can include:
Bumps or lumps around your knees, knuckles, or elbowsSwollen or painful Achilles tendonYellowish areas around your eyesA whitish gray color in the shape of a half-moon on the outside of your cornea
Adenosine triphosphate-citrate lyase (ACL) inhibitors are another class of drugs that work by blocking the production of cholesterol in the liver. They are used as a primary prevention of high cholesterol in individuals with heterozygous FH. To date, bempedoic acid (Nexletol) is the only ACL inhibitor used to reduce LDL cholesterol in this population that has been approved by the U.S. Food and Drug Administration (FDA). Doctors may treat cholesterol more aggressively than they would for somebody without familial hypercholesterolemia. The goal of treatment may be to reduce cholesterol levels by at least half or to get it below 100 mg/dL. Individuals with other risk factors for heart disease like hardening of the arteries or type 2 diabetes may have an even more aggressive cholesterol target of below 70 mg/dL. Children with familial hypercholesterolemia may also need to cut their cholesterol levels in half. Alternatively, they may have to achieve cholesterol levels below 130 mg/dL. Lifestyle interventions are also key. Adults with familial hypercholesterolemia may have to overhaul their eating habits to restrict saturated fats and eliminate trans fats. They should also decrease dietary cholesterol and consume more soluble fiber. People with familial hypercholesterolemia also need to maintain a healthy body weight and get regular exercise. This may not have a big impact on cholesterol levels, but it can help prevent heart disease by promoting lower blood sugar and blood pressure levels. In some cases when medication and lifestyle changes aren’t able to produce sufficient reductions in LDL cholesterol levels, some people with familial hypercholesterolemia may need to undergo a process known as LDL apheresis. This is similar to kidney dialysis, and involves using a catheter to remove blood so it can be processed to remove LDL cholesterol and then returned to the body. More rarely, people with familial hypercholesterolemia may receive a liver transplant from a donor without this condition who processes LDL cholesterol normally. This isn’t an option for people with mutations on certain genes, and it requires major surgery and lifelong immune-suppressing drugs to avoid organ rejection.
