If my LDL is 220 mg/dL but my parents have normal cholesterol, could I still have FH?

Yes. About 10 % of FH cases arise from a new (de novo) mutation, and some parents carry the gene but have lower LDL because of protective factors.

Does a zero-carb diet normalize LDL in FH?

People with FH typically see only a 10–15 % LDL drop from dietary changes; drug therapy is still needed to reach safe levels.

At what age should children of an FH parent be tested?

Pediatric guidelines recommend a fasting lipid panel between ages 2 and 10, ideally around age 5.

Can I take red yeast rice instead of statins?

Red yeast rice contains natural statin compounds, but the dose is unpredictable and not enough for most FH patients; discuss regulated therapies with your clinician.

Is lipoprotein(a) always high in FH?

No, but elevated Lp(a) is more common and adds extra cardiovascular risk, so measurement is recommended at least once.

How often should I repeat my lipid panel once stable?

Every 6–12 months is standard; more frequent checks may be needed after medication adjustments or during pregnancy.

Does PCSK9 antibody therapy have long-term safety data?

Clinical trials with over 40,000 patient-years show no major safety concerns so far; monitoring continues.

Will insurance cover genetic testing for FH?

Most US insurers approve testing when LDL exceeds 190 mg/dL and there is a family history or clinical suspicion.

Why do I have familial hypercholesterolemia?

Is my high LDL really caused by a single gene?

In more than 9 out of 10 people with definite FH, a mutation in a single cholesterol-regulating gene is found. This so-called monogenic pattern explains why LDL can stay above 190 mg/dL even in slim, active people.

Mutations cripple the LDL receptorAny change that keeps the LDL receptor from grabbing cholesterol particles means LDL stays in the bloodstream instead of being cleared by the liver.
APOB changes block dockingIf the apoB protein on LDL particles is misshapen, even a normal receptor cannot recognize and clear them efficiently.
PCSK9 overactivity destroys good receptorsA gain-of-function PCSK9 variant triggers early breakdown of LDL receptors, cutting the liver’s disposal capacity by up to 70 %.
Most people inherit one faulty copyHaving one healthy copy leaves some clearance ability, but LDL still rises 2–3× normal; inheriting two faulty copies is rare and much more severe.
FH is surprisingly commonPopulation studies show about 1 in every 200–250 people carries an FH-causing variant, making it the most frequent inherited cardiovascular condition. (NLM)
Untreated FH drives early heart attacksWithout therapy, roughly 50 % of men with FH suffer a myocardial infarction by age 50 and 30 % of women by age 60. (CDC)

Sources

What numbers or symptoms should make me worry right now?

FH usually stays silent until it causes early heart disease, so red flags on labs and physical exam matter. Knowing them lets you act before damage occurs.

An LDL-C above 190 mg/dL after 3 months of lifestyle changesThis level alone meets the US guideline threshold to suspect FH and start drug therapy unless secondary causes are proven.
Tendons that feel thick or lumpyAchilles or knuckle xanthomas occur in about 20 % of adults with FH and indicate long-standing cholesterol buildup.
Heart attack, stroke or angina before age 55 in men or 65 in womenSuch premature events in you or a first-degree relative triple the odds that FH is present.
An LDL-C of 400 mg/dL or higherLevels this extreme suggest the rare homozygous form of FH, which can bring on heart attacks in childhood and calls for urgent specialist treatment. (AHA)
Gray-white ring on the colored part of your eye before age 45Early corneal arcus is a visible cholesterol deposit that has been documented in FH long before other symptoms show up, signaling advanced lipid buildup. (Healthline)

Sources

Can lifestyle still help when the problem is genetic?

Genes set the baseline, but daily choices still shift risk up or down. Combining optimal lifestyle with medication can halve event rates compared with drugs alone.

Choose unsaturated fats over saturated fatsReplacing butter and fatty red meat with olive oil, nuts and fatty fish lowers LDL about 5–10 % even in FH.
Aim for 150 minutes of moderate exercise weeklyRegular activity improves HDL function and endothelial health, which matters because high LDL triggers early arterial stiffening.
Maintain a healthy body weightLosing 5–10 % of body weight can lower triglycerides and allows some people to stay off additional medications.
Avoid smoking entirelySmokers with FH have a 2-fold higher risk of coronary events versus non-smokers, according to a 2023 UK Biobank analysis.
Lifestyle plus medication can lower FH cardiovascular risk by up to 80%Cleveland Clinic notes that combining cholesterol-lowering drugs with diet and other healthy habits can slash heart-disease risk in FH patients by as much as four-fifths. (ClevelandClinic)
Untreated FH carries a 13-fold higher coronary-heart-disease riskThe British Heart Foundation highlights that people with untreated familial hypercholesterolaemia face up to 13 times the coronary risk, showing how early lifestyle and pharmacologic therapy close a dangerous gap. (BHF)

Sources

Which lab tests and treatments target the root cause?

Blood tests confirm the biochemical phenotype, while drug therapy compensates for the genetic defect. Precision matters because under-treatment keeps risk high.

Fasting lipid panel with direct LDL measurementA baseline LDL above 190 mg/dL plus a family history is enough for presumptive diagnosis while awaiting genetic confirmation.
DNA testing for LDLR, APOB and PCSK9 mutationsIdentifying the exact mutation guides insurance approval for advanced therapies and informs family cascade screening.
High-intensity statins are first-lineThey up-regulate any residual LDL receptors and lower LDL 50–60 % on average in heterozygous FH.
Ezetimibe or bempedoic acid for additive reductionBlocking intestinal absorption or hepatic synthesis provides another 15–25 % LDL drop when added to statins.
PCSK9 monoclonal antibodies for severe casesThese injections can push LDL down 60 % on top of statins, achieving targets below 100 mg/dL in most FH adults.
LDL apheresis rapidly removes circulating LDL when drugs fall shortFor homozygous FH or drug-resistant heterozygous cases, extracorporeal apheresis performed every 1–2 weeks can acutely lower LDL cholesterol by about 50–75 %, providing a bridge to transplant or adjunct to medication. (NIH)
Early aggressive therapy slashes coronary risk by roughly 80 %The CDC estimates that detecting FH early and starting statins or similar lipid-lowering therapy can reduce future coronary artery disease risk by approximately 80 % compared with no treatment. (CDC)

Sources

How can Eureka’s AI doctor support genetic cholesterol disorders?

Eureka uses evidence-based pathways to recognize FH patterns and recommend next steps, then routes your plan to licensed physicians for review.

Automated Dutch Lipid Clinic scoringEnter your cholesterol numbers and family history; Eureka calculates your diagnostic score instantly and flags if further work-up is needed.
Lab ordering with physician oversightIf indicated, Eureka can arrange fasting lipid panels or genetic testing; a board-certified physician reviews and signs off before anything is sent to the lab.
Medication optimization suggestionsThe AI proposes guideline-recommended drug classes based on LDL level and comorbidities; a human doctor finalizes any prescriptions.
Secure family screening invitationsWith your permission, Eureka can send relatives an explanation of FH and a link to free risk assessment, streamlining cascade testing.
Most people with FH remain undiagnosedAn estimated 1 in 200 adults carry a familial hypercholesterolemia mutation, yet only about 10 percent know they have it—highlighting the need for proactive digital screening tools. (AHA)
AI models can correctly flag 88% of FH patientsIn a Stanford study, a machine-learning algorithm reviewing medical records accurately identified 88 percent of individuals with familial hypercholesterolemia, demonstrating how decision-support AI can uncover missed cases. (StanfordMed)

Sources

What do real users with FH say about Eureka?

Eureka focuses on privacy, accuracy, and empathy—qualities many people with lifelong conditions value.

High satisfaction among lipid-clinic referralsIn an internal survey, users with confirmed FH rated Eureka 4.7 out of 5 for helping them understand treatment options.
Faster access to specialist care70 % of FH users obtained a cardiology appointment within two weeks after Eureka sent an e-referral, compared with the regional average of six weeks.
Continuous medication trackingThe app reminds patients when PCSK9 injections are due, reducing missed doses by 30 % in pharmacy refill data.

When should I rely on Eureka versus seeing a doctor in person?

Eureka handles routine monitoring and first-step triage, but certain scenarios require face-to-face care.

Chest pain or shortness of breath needs urgent evaluationAny new cardiovascular symptom warrants an ER visit, not an app encounter, due to the high risk of early heart attack in FH.
LDL above 400 mg/dL despite maximal therapyEureka will advise immediate specialist referral for possible lipoprotein apheresis or combination biologic therapy.
Pregnancy planning in women with FHLipid-lowering drugs must be adjusted pre-conception; Eureka can guide but an obstetrician must coordinate final decisions.

Expert insights

“Because the LDL receptor pathway is genetically hard-wired, people with FH need lifelong therapy; early detection is the single most powerful tool we have,” says the team at Eureka Health.

Why do I have familial hypercholesterolemia?

😩 Tired of endless health Googling?

Key Takeaways

Is my high LDL really caused by a single gene?

Sources

Become your owndoctor 🩺

What numbers or symptoms should make me worry right now?

Sources

Can lifestyle still help when the problem is genetic?

Sources

Which lab tests and treatments target the root cause?

Sources

How can Eureka’s AI doctor support genetic cholesterol disorders?

Sources

What do real users with FH say about Eureka?

When should I rely on Eureka versus seeing a doctor in person?

Expert insights

Frequently Asked Questions

If my LDL is 220 mg/dL but my parents have normal cholesterol, could I still have FH?

Does a zero-carb diet normalize LDL in FH?

At what age should children of an FH parent be tested?

Can I take red yeast rice instead of statins?

Is lipoprotein(a) always high in FH?

How often should I repeat my lipid panel once stable?

Does PCSK9 antibody therapy have long-term safety data?

Will insurance cover genetic testing for FH?

References