Worried your LDL is sky-high even though you're doing "everything right"? You're not imagining it for some people, cholesterol runs high because it runs in the family. Familial hypercholesterolemia (FH) is a genetic condition that can push LDL ("bad" cholesterol) up from birth and raise heart risk far earlier than expected. The good news: with a clear plan, you can lower LDL by 50% or more and protect your heart. And if someone in your family had an early heart attack, or your LDL stays high despite healthy habits, it's absolutely worth checking for FH. Testing is straightforward, treatments work, and getting relatives screened can literally save lives.
What is FH
The core problem: inherited high LDL from birth
Think of your bloodstream like a highway and LDL particles like trucks carrying cholesterol. Your liver has "garages" (receptors) that pull those trucks off the road. In familial hypercholesterolemia, those garages don't work well or there aren't enough of them so too many LDL trucks keep driving around, bumping into artery walls and leaving behind plaque. This isn't about willpower or a bad diet. It's about biology you inherited.
Simple LDL receptor biology (why LDL stays high)
Most FH is caused by a change in the LDLR gene (the LDL receptor). Less often, it's due to APOB (the truck's "docking hook"), PCSK9 (a protein that destroys garages), or other rare genes. If receptors can't grab LDL efficiently, LDL builds up in the blood. Over years, that can harden arteries and set the stage for heart attacks or stroke. It starts early often long before symptoms.
Types: heterozygous vs. homozygous FH
There are two main types, and the urgency differs:
Typical LDL ranges, age of complications, and urgency differences
Heterozygous FH (HeFH): You inherit one affected gene. LDL is often 160250 mg/dL in adults, sometimes higher. Without treatment, early heart disease can show up in your 30s50s (earlier if you smoke or have diabetes). The upside: standard therapies work very well.
Homozygous FH (HoFH): You inherit two affected genes. LDL is usually above 400 mg/dL, sometimes over 600 mg/dL. Symptoms can appear in childhood even before school age and heart or valve disease may start shockingly early. HoFH is rare and needs rapid, specialized treatment.
How common is FH?
General population vs. high-prevalence groups; why most people don't know
HeFH affects about 1 in 250 people so picture one person in a large movie theater. In certain groups (like French Canadian, Lebanese, Dutch Afrikaner, and Ashkenazi Jewish communities), it's even more common due to "founder" variants. HoFH is much rarer roughly 1 in 300,0001,000,000. Most people don't know they have FH because high cholesterol often has no symptoms, and routine checks can miss the family pattern unless someone connects the dots.
Key signs
Early clues and red flags you shouldn't ignore
Red flags include LDL at or above 190 mg/dL in adults, or 160 mg/dL in kids, especially with a family history of early heart disease. Another sign: your LDL barely budges with lifestyle changes alone. If a parent, sibling, or child has very high LDL or had a heart attack at a young age, your antennae should go up. These patterns whisper "genetic high LDL" don't ignore them.
Physical findings in plain language
Some people develop cholesterol deposits called xanthomas firm yellow bumps on tendons (like the Achilles) or on hands and elbows. Xanthelasma are yellowish plaques around the eyelids. Corneal arcus is a pale ring at the edge of the iris; in younger people, it can hint at inherited high LDL. Not everyone has these, but if you do, they're important clues worth mentioning to your clinician.
Homozygous FH symptoms: what's different
HoFH timelines; why rapid treatment matters
With HoFH, LDL can soar above 400 mg/dL. Xanthomas may appear in early childhood. Kids might develop heart murmur signs due to aortic valve narrowing or have chest pain with exertion. Without quick, aggressive treatment, complications can occur in childhood or adolescence. The faster the diagnosis and therapy, the better the long-term outlook time really matters here.
Family patterns that raise suspicion
What "early" means by age and sex
"Early" heart disease typically means before age 55 in men and before 65 in women. If your dad had a heart attack at 48, or your aunt needed bypass surgery at 52, it's a signal. When multiple relatives across generations have high cholesterol or early heart problems, suspect FH. One of the most powerful steps you can take is to ask relatives about their numbers and history it's uncomfortable sometimes, but it's lifesaving knowledge.
Get diagnosed
Lab thresholds that point to FH
LDL and non-HDL cutoffs; when to repeat tests
LDL-C 190 mg/dL in adults strongly suggests FH, especially if persistent on repeat testing and with a family history. In children, LDL-C 160 mg/dL raises concern; 130 mg/dL in a child with an affected parent can also be significant. Non-HDL cholesterol (total minus HDL) can help too a high value supports the picture. It's wise to repeat a fasting lipid panel to confirm and rule out temporary spikes (like recent illness).
Clinical criteria and genetic testing
Dutch Lipid Clinic and Simon Broome made simple
Doctors use scoring systems that weigh LDL levels, physical signs, and family history to estimate the likelihood of FH. The Dutch Lipid Clinic and Simon Broome criteria are the classics. Genetic testing can confirm the specific gene involved, guide treatment, and supercharge family screening but a negative test doesn't rule out FH if the clinical picture is strong. If a mutation is found in one person, it's a roadmap to test relatives.
According to the American Heart Association's consensus and the U.S. pediatric screening recommendations, early identification and cascade screening dramatically reduce risk when treatment begins sooner in life. You can explore readable overviews in resources by the American Heart Association and patient-friendly guides summarized by MedlinePlus Genetics.
Cascade screening: protect the whole family
Who to test and how to talk to relatives
Once FH is suspected or confirmed, first-degree relatives (parents, siblings, children) should be tested next then second-degree relatives. A simple script helps: "My doctor thinks we have a hereditary cholesterol condition. It's common and treatable, and I'd love for you to get a quick lipid panel." If there's a known gene change, targeted genetic testing is efficient. Sharing results can feel vulnerable, but it's an act of care.
Start treatment
First-line medications and how they help
Statins, ezetimibe, bile binders, PCSK9 inhibitors
Medications are the foundation for FH treatment because they fix what lifestyle can't. Typical LDL reductions:
High-intensity statins (atorvastatin, rosuvastatin): ~50% decrease. They boost LDL receptors and calm artery inflammation.
Ezetimibe: ~1520% decrease. Blocks cholesterol absorption in the intestines; often added to statins.
Bile acid sequestrants (cholestyramine, colesevelam): ~1020% decrease. They bind bile acids in the gut; useful in kids and adults, though some GI side effects occur.
PCSK9 inhibitors (alirocumab, evolocumab): ~5060% decrease when added to statins. They protect LDL receptors from being broken down. For many with HeFH, these are game-changers.
Advanced therapies for tougher cases and HoFH
LDL apheresis, lomitapide, mipomersen, evinacumab
For very high LDL or HoFH, advanced tools step in:
LDL apheresis: Think of it like "dialysis" for LDL. Every 12 weeks, a machine filters LDL directly from your blood, reducing levels 5075% immediately. It's time-intensive but lifesaving in HoFH.
Lomitapide: An oral medication that reduces production of LDL particles. Requires liver monitoring and a low-fat diet.
Mipomersen: An injection that targets apoB production; used less often due to liver-related side effects and access issues.
Evinacumab: An ANGPTL3 inhibitor infusion that can lower LDL independently of the LDL receptor very helpful in HoFH, where standard pathways may not work well.
Lifestyle still matters
What actually helps in inherited high LDL
While meds do the heavy lifting, lifestyle supports every step:
Adopt a heart-forward eating pattern: vegetables, fruits, whole grains, legumes, nuts, seeds; choose fatty fish; favor olive oil and canola; limit saturated fats (fatty meats, butter, full-fat dairy) and avoid trans fats. Aim for 2530 grams of fiber daily soluble fiber (oats, beans, psyllium) is a quiet LDL-lowering hero.
Move most days: Target 150 minutes of moderate activity weekly plus 2 days of strength training. Even short walks after meals help.
Prioritize sleep, reduce tobacco exposure, and manage stress because arteries notice all of it.
Treatment plans by scenario
Sample stepwise approaches
HeFH adult: Start a high-intensity statin. Recheck LDL in 412 weeks. If above goal, add ezetimibe. If still above goal, consider a PCSK9 inhibitor. Discuss Lp(a) testing, blood pressure, and diabetes risk.
HeFH child: Begin with lifestyle and nutrition. Statins are often started around ages 810 if LDL remains high. Bile acid sequestrants or ezetimibe can be considered. Pediatric lipid specialists personalize plans, balancing growth and safety.
HoFH patient: Immediate combination therapy high-intensity statin, ezetimibe, PCSK9 inhibitor if responsive, plus LDL apheresis. Consider evinacumab or lomitapide at centers experienced with HoFH. Close coordination with a specialized clinic is essential.
Daily life
Setting LDL targets and tracking progress
Visits, labs, and practical tracking
Targets are individualized. Many adults with FH aim for at least a 50% LDL reduction, often to below 100 mg/dL, and lower if there's existing heart disease (sometimes <70 mg/dL). After starting or changing meds, check lipids in 412 weeks, then every 312 months. Keep an eye on blood pressure, A1C if needed, and your weight not obsessively, just consistently. A simple note on your phone can track meds and lab dates. Small, steady steps win.
Side effects and how to handle them
Common statin issues and safe options
Worried about statins? Many people do well, and most side effects are manageable. If you notice muscle aches, let your clinician know options include adjusting the dose, switching statins, or using alternate-day dosing. True serious side effects are rare. Liver enzymes are checked at baseline and if symptoms arise. If statins aren't a fit, combinations of ezetimibe, bile binders, and PCSK9 inhibitors still get you to goal. Don't suffer in silence there's almost always a plan B.
Heart risk beyond LDL
Tobacco, diabetes, blood pressure, Lp(a)
LDL is a big driver, but it's not the only one. If you smoke or vape, getting support to quit is one of the highest-impact choices for your heart. Keep blood pressure and blood sugar in healthy ranges. Ask about lipoprotein(a), or Lp(a) a genetic lipoprotein that can add extra risk. Managing these together turns "good odds" into "great odds."
Special cases
Children and teens with FH
When to screen; when to start meds
Screen kids earlier if a parent has FH often between ages 28. Universal screening is often done once between 911 and again at 1721. If LDL stays high despite healthy habits, pediatric lipid specialists may start statins as early as 810 years old. Families sometimes worry about growth or puberty the reassuring news is that statins have a strong safety record in kids with FH when monitored appropriately.
Pregnancy, fertility, and FH
Planning with your care team
If you're planning pregnancy, tell your clinician early. Statins, ezetimibe, and PCSK9 inhibitors are typically paused before conception and during pregnancy and breastfeeding. Bile acid sequestrants and, in rare high-risk cases, LDL apheresis may be used. Preconception planning helps keep you and your baby safe while protecting your heart long-term.
"My LDL is 220 could this be genetic?"
Quick self-check and next steps
Yes, especially if your diet is balanced and you have family history of early heart disease. Ask yourself: Is my LDL persistently 190? Do close relatives have high LDL or early heart attacks? Do I have tendon bumps or eyelid plaques? If your answer is yes to one or more, book a visit to discuss FH and consider genetic testing. You deserve clarity and a plan that works.
Insurance, access, and support
Making advanced therapies doable
Prior authorizations can be frustrating, but documentation helps: your LDL history, family history, prior medications tried, and guideline-based indications. Many manufacturers and foundations offer patient assistance for PCSK9 inhibitors, lomitapide, and evinacumab. Your clinician's office or a lipid clinic often knows the shortcuts don't be shy about asking.
HoFH focus
Recognize homozygous FH fast
Very high LDL, childhood clues
Think HoFH if LDL is >400 mg/dL, xanthomas show up in early childhood, or there's early aortic valve disease. Sometimes both parents have HeFH when their genes combine, a child can inherit HoFH. If you're seeing these signs, move quickly. Early, aggressive therapy changes the story.
Rapid treatment and care team
Why apheresis and combination therapy start early
HoFH care typically includes immediate combination medication and rapid referral to a center with LDL apheresis and experience in evinacumab or lomitapide. A coordinated team cardiology, lipidology, pediatrics (if a child), genetics, and nutrition makes the load feel lighter. Families often find relief when there's a clear plan and regular follow-up.
Family planning and genetics
Support resources and registries
Genetic counseling helps families understand inheritance, options for testing relatives, and reproductive choices. Many patients find community through FH foundations and registries, where stories and practical tips make a tough diagnosis feel more manageable. Shared experience can be its own kind of medicine.
Find good care
What top guidelines recommend
Consensus you can trust
Major societies align on key points: screen earlier when there's family history, treat LDL aggressively in FH, and use cascade screening to protect relatives. Summaries from the American College of Cardiology and American Heart Association, as well as clinical reviews in sources like StatPearls, echo these standards and they're reflected in modern lipid clinics across the country.
How to choose a clinician
What a high-quality visit looks like
Look for someone who takes a thorough family history, explains risks plainly, sets LDL targets, and maps a stepwise plan (including add-on meds if needed). They should discuss side effects honestly, offer lifestyle guidance that fits your life, and invite your family into the screening process. If they mention Dutch Lipid Clinic or Simon Broome criteria and talk confidently about PCSK9 inhibitors or apheresis (if relevant), you're in good hands.
Real-world stories
Short vignettes
An undiagnosed HeFH adult: Maya's LDL hovered around 210 mg/dL. She ate well, ran 5Ks, and still felt guilty. Her brother had a heart attack at 49. After her doctor raised FH, she started a high-intensity statin and ezetimibe LDL dropped 55%. A PCSK9 inhibitor later brought her to 70 mg/dL. Her sister got screened and started treatment early. Today, Maya feels empowered rather than worried.
A child with HoFH caught early: At age 4, Liam had tendon xanthomas and LDL above 500 mg/dL. A specialized center started combination therapy and biweekly LDL apheresis. He's now a curious, energetic 8-year-old who loves soccer. His parents coordinate school schedules around treatments, and they've found a community of families walking the same road.
Conclusion
Familial hypercholesterolemia is common, serious, and very treatable. If your LDL is high despite a healthy lifestyle, or early heart disease runs in your family, ask about FH and cascade screening. Early diagnosis plus the right mix of medication, smart nutrition, and regular follow-up can cut risk dramatically even for homozygous FH, where prompt, intensive care saves lives. Your next best step: get a fasting lipid panel, review your family history with a clinician, and discuss a clear LDL-lowering plan and screening for loved ones. You're not alone with informed care, most people with FH lead full, active lives. What questions are on your mind? If you want to share your story or need help mapping next steps, I'm here to help.
Disclaimer: This article is for informational purposes only and does not constitute medical advice. Always consult with a healthcare professional before starting any new treatment regimen.
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