Familial Hypercholesterolemia (FH)

Confirm your diagnosis with genetic testing (LDL receptor, APOB, PCSK9 genes). If you test positive, all first-degree relatives — parents, siblings, children — should be tested through cascade screening. FH is a family disease. Identifying it early in relatives is the single most impactful thing you can do.

FH management requires LDL targets far below normal recommendations — often below 70 mg/dL or even 55 mg/dL if you already have heart disease. A lipid specialist or preventive cardiologist will know the current evidence on aggressive LDL lowering in FH, when to add PCSK9 inhibitors, and how to navigate insurance prior authorization for newer therapies.

Statins are the foundation of FH treatment and can reduce LDL 40-60%. But heterozygous FH patients often need LDL below 100 mg/dL (or below 70 mg/dL with cardiac risk factors), and statins alone may not get you there. Ask your doctor about adding ezetimibe and, if needed, a PCSK9 inhibitor (Repatha, Praluent) or the twice-yearly siRNA therapy Leqvio.

FH patients should have a baseline coronary artery calcium (CAC) score CT scan or carotid intima-media thickness ultrasound. These detect subclinical atherosclerosis and help determine how aggressively to treat. A young FH patient with zero calcium score has more time; one with elevated calcium needs urgent LDL lowering.

Repatha and Praluent list at $14,000+/year but Amgen's co-pay program (Repatha NOW) and Regeneron/Sanofi's co-pay card typically bring costs to under $5/month for commercially insured patients. For uninsured patients, both manufacturers have free drug programs. Leqvio has Novartis's QardioHeart support. Don't let sticker price be a barrier.

Familial hypercholesterolemia (FH) is an inherited genetic disorder — passed down through families — that causes dangerously elevated LDL cholesterol from birth. It is caused by mutations in genes that regulate how LDL is cleared from the blood (most commonly the LDL receptor gene, APOB, or PCSK9). Unlike lifestyle-related high cholesterol, FH cannot be controlled through diet and exercise alone — people with FH have high LDL regardless of how well they eat or exercise. Without treatment, cholesterol buildup causes atherosclerosis, leading to heart attacks decades earlier than in the general population.

The biggest clue is family history: a parent, sibling, or grandparent with early heart disease (heart attack before age 55 in a man or 65 in a woman) or very high cholesterol. Personal red flags include LDL above 190 mg/dL (adults) or 160 mg/dL (children), cholesterol deposits called xanthomas, or heart disease before 50. A genetic test can confirm a pathogenic mutation. If FH is suspected, cascade testing of all first-degree relatives is recommended.

Statins are first-line for FH and can reduce LDL by 40-60%. For heterozygous FH, maximum-dose statins often get LDL to goal. For homozygous FH or patients who can't achieve LDL goals on statins alone, PCSK9 inhibitors (Repatha, Praluent) add another 60% LDL reduction on top of statins. PCSK9 is a protein that destroys LDL receptors — inhibiting it keeps more receptors active, allowing the liver to clear more LDL. PCSK9 inhibitors are injectable biologics vs oral daily pills for statins.

Yes — without treatment, FH is life-threatening. Untreated heterozygous FH carries a 20-fold increased risk of coronary artery disease. Men with untreated FH have a 50% chance of a heart attack by age 50; women by age 60. The critical point: FH is highly treatable with early diagnosis and medication. Most people with FH who are treated appropriately can have a normal life expectancy. The danger is being undiagnosed — which describes 90% of FH patients in the U.S.

Yes. If a parent has FH, each child has a 50% chance of inheriting it. The AHA and AAP recommend cholesterol screening in children between ages 9-11, and earlier with family history of FH or early heart disease. Treating FH in childhood with diet and, when needed, statins significantly reduces lifetime cardiovascular risk. Statins are approved and safe for children with FH as young as 8 years old.