Got very high LDL cholesterol despite eating well and exercising? That’s a red flag for familial hypercholesterolemia (FH), an inherited condition that raises heart disease risk early in life. FH is common—about 1 in 250 people have it—and many don’t know. This page tells you what to watch for, how testing works, and what actually helps lower risk.
What FH is and why it matters
FH causes your body to keep too much LDL (“bad”) cholesterol from birth because of a gene change that affects how the liver clears LDL. There are two main forms: heterozygous FH (one altered gene) and the rare homozygous FH (two altered genes), which is much more severe. High LDL over years damages arteries, so people with FH often develop heart disease decades earlier than expected.
Signs to watch for and testing steps
Look for these clues: LDL levels above ~190 mg/dL in adults, very high LDL in a teenager or young adult, or a family history of heart attacks at a young age. Physical signs can include fatty deposits around the eyes or tendons (xanthomas), though not everyone gets them. If you suspect FH, start with a fasting lipid panel and share your full family health history with your clinician.
Genetic testing can confirm FH and helps decide who else in the family should be checked—this is called cascade screening. If a relative tests positive, children can be screened early so treatment can begin sooner. Ask your provider about the availability and cost of genetic tests and whether insurance might cover them.
Treatment options and day-to-day moves that help
Treatment combines medicine and sensible habits. Statins are the first-line drugs and are proven to lower LDL and reduce heart risk. If LDL remains high despite statins, doctors add ezetimibe or newer agents like PCSK9 inhibitors. In severe cases, specific therapies and close specialist care are needed.
Don’t skip lifestyle steps—even though they usually aren’t enough alone for FH. Aim for a Mediterranean-style eating pattern, cut saturated fats, stay active, avoid smoking, and keep blood pressure and blood sugar in check. Women who are pregnant or planning pregnancy should talk to their doctor—many cholesterol drugs aren’t safe during pregnancy.
Start by getting a clear lipid panel and sharing your family history. Ask about genetic counseling and cascade screening so family members can get tested early. If you have FH, regular follow-up and the right medicines can dramatically lower your risk of heart disease. For more articles and practical tips, search MedExpressRx for reliable, easy-to-read guidance on cholesterol and heart health.
As a blogger, I've recently come across an essential medication called Cholestyramine, which plays a crucial role in managing Familial Hypercholesterolemia. Familial Hypercholesterolemia is a genetic disorder that results in dangerously high levels of cholesterol in the blood, increasing the risk of heart disease. Cholestyramine is a bile acid sequestrant that helps lower cholesterol levels by preventing the absorption of cholesterol in the intestines. By incorporating this medication into their treatment plan, individuals with Familial Hypercholesterolemia can significantly reduce their risk of heart-related complications. It's important to consult with a healthcare professional before starting any new medication, but Cholestyramine has shown great promise in helping those affected by this genetic disorder.
