- Bumps or lumps around the knuckles, elbows, and knees, called “xanthomas.” These are formed when excess cholesterol deposits on tendons or under the skin and may be noticed by a dermatologist.
- Swollen or painful Achilles tendons (“tendon xanthomas”). Excess cholesterol may deposit in the tendons, which makes them enlarged and may cause pain.
- Yellowish areas around the eyes (“xanthelasmas”).
- A white or grey arc near the colored part of the eye (“corneal arcus”). This may be noticed by an ophthalmologist.
Most people know that high cholesterol, or hypercholesterolemia, can cause narrowing or blocked arteries and plaques, increasing your risk of life-threatening occurrences such as heart attacks and strokes. What many people might not realize, though, is that not all types of hypercholesterolemia are equal. Individuals whose high cholesterol is the result of a genetic disorder, known as Familial Hypercholesterolemia (FH), are much more likely to suffer from aggressive, early-onset heart disease that can lead to premature disability or death.Is Hypercholesterolemia Hereditary?The key word is “Familial.” While anyone with cholesterol readings even slightly above the normal range can be said to have hypercholesterolemia, Familial Hypercholesterolemia is a specific genetic condition that limits the liver’s ability to regulate low density lipoproteins, commonly known as LDL or “bad” cholesterol. As a genetic disorder, FH exists in individuals even before they are born, and the more serious form can cause narrowing of the blood vessels while the baby is still in the womb. The condition will last a lifetime.Risk — Genetics vs LifestyleSometimes high cholesterol is the result of unhealthy lifestyle choices, and that kind is preventable and treatable. Eating a healthy diet, exercising regularly, not smoking and limiting exposure to secondhand smoke can go a long way toward reducing LDL levels and lowering the risk for heart disease in individuals with lifestyle-induced hypercholesterolemia. Unfortunately for people with FH, they have a hereditary form of hypercholesterolemia, resulting in extremely high levels of LDL that can’t be controlled simply through diet and exercise. FH is a serious, life-threatening condition and almost always requires medical treatment.Those with one parent with FH have a 50-percent chance of inheriting the condition, known as heterozygous FH (HeFH). If both parents have FH, their children have a 50 percent chance of having HeFH, and a 25-percent chance of having a much more dangerous form of the condition, known as homozygous FH (HoFH), which results from receiving two altered chromosomes. Untreated, individuals with HoFH have a high risk of suffering heart attacks and death before the age of 30. (Source:https://www.genome.gov/25520184)One in every 200-500 people worldwide has familial hypercholesterolemia. In the United States, more than 600,000 people have FH and nearly 90 percent of those people are not diagnosed. HoFH is very rare, occurring in about 1 in 160,000 to one in 1,000,000 people worldwide.Your doctor might consider a diagnosis of thehereditary form of hypercholesterolemia (FH) if your family has a history of high cholesterol or a pattern of heart attacks or heart disease in men before age 55 or in women before age 65. The American Academy of Pediatrics recommends that children with that kind of family medical history undergo cholesterol testing as early as age two and that all children have their cholesterol screened between the ages of 9 and 11.SymptomsIn most cases, high cholesterol has no symptoms, so a blood test is the only way to detect it. While the Centers for Disease Control considers an LDL level of more than 100 mg/dL as undesirable, a diagnosis of FH may be considered if his or her reading is above 190 mg/dL (adult), or above 160 mg/dL (child). According to the National Institutes of Health, people with HeFH typically have an LDL cholesterol level two to three times higher than normal, while those with HoFH can have LDL levels three to six times higher than normal. Because FH is the hereditary form of hypercholesterolemia, these readings can’t be brought down to healthy levels simply through diet and exercise.In general, high cholesterol is an invisible disease, though some people with FH may show some visible signs of their genetic condition. These may include: