Familial hypercholesterolemia

Advanced paternal age: As men get older, sperm cells go through many more rounds of copying, and small changes can arise during this process. This slightly raises the chance a child is born with a condition present from birth, and very rarely this can include familial hypercholesterolemia.

High-dose radiation: Significant radiation to the testes or ovaries before conception can increase errors when reproductive cells are formed. Everyday medical imaging uses much lower doses, but very high exposures may modestly raise the chance of conditions that start at birth.

Strong chemical exposures: Long-term contact with certain cell-damaging substances in the workplace, such as some heavy metals or industrial solvents, can harm reproductive cells. Regulations limit these exposures in many countries, but if present, they could slightly increase the chance of a condition that begins before birth.

Random cell changes: Sometimes, changes arise by chance as egg or sperm cells form, without any clear outside trigger. This background chance is small but constant across families.

Saturated/trans fats: Diets high in butter, fatty red meats, full-fat dairy, and fried or packaged foods raise LDL further in FH. Lowering these fats can reduce LDL by a modest amount that stacks with statins or PCSK9 inhibitors. Even modest reductions can slow plaque growth.

Refined carbs/sugars: Sugary drinks and refined grains raise triglycerides and small dense LDL, compounding risk in FH. Choosing high‑fiber carbs helps improve lipid profile and lowers post‑meal surges that stress arteries.

Excess alcohol: Regular heavy drinking increases triglycerides and can worsen blood pressure, adding to FH-related plaque risk. If you drink, keeping intake low reduces these additive harms.

Physical inactivity: Low activity impairs HDL, insulin sensitivity, and endothelial function, all of which heighten event risk in FH. Regular aerobic and resistance exercise can modestly improve lipids and vessel health even if LDL falls only slightly.

Weight gain/central fat: Visceral fat promotes insulin resistance and atherogenic lipids that compound FH-related LDL burden. Losing even 5–10% of body weight can improve triglycerides, HDL, and inflammation to reduce overall risk.

Smoking/vaping: Tobacco and nicotine accelerate endothelial damage and plaque instability, multiplying the high baseline risk in FH. Quitting rapidly lowers cardiovascular event risk even when LDL remains elevated.

Low soluble fiber: Diets low in oats, beans, fruits, and psyllium miss cholesterol‑trapping fibers that lower LDL. Adding soluble fiber can produce small LDL reductions that meaningfully complement medication effects.

Medication nonadherence: Skipping or inconsistently taking lipid‑lowering therapy allows LDL to rebound, negating lifestyle gains. Building daily routines and using reminders supports sustained LDL control in FH.

Regular cholesterol checks: Get fasting lipid panels on a schedule your clinician sets. Early and repeated testing helps track LDL levels and guides treatment for FH.

Specialist care: Work with a lipid clinic or cardiologist experienced in FH. They can tailor targets and testing to your age, sex, and family history.

LDL-lowering medicines: Take statins and other LDL‑lowering medicines exactly as prescribed. Consistent use over years is what reduces artery plaque and heart attack risk in FH.

Heart-healthy eating: Choose plenty of vegetables, fruits, whole grains, beans, and fish while limiting saturated fats and trans fats. Adding soluble fiber and plant sterols can nudge LDL lower in FH.

Regular movement: Aim for routine aerobic activity most days, plus some strength work each week. Exercise supports heart health in FH, even when genes push LDL higher.

Tobacco avoidance: Don’t smoke and avoid secondhand smoke. Tobacco speeds artery damage in FH and cancels out some benefits of treatment.

Blood pressure control: Keep blood pressure in a healthy range with lifestyle steps and medicines if needed. Lower pressure reduces strain on arteries already stressed by FH.

Diabetes and weight: Manage blood sugar and maintain a healthy weight. These steps help protect arteries and improve cholesterol patterns in FH.

Family cascade screening: Encourage parents, siblings, and children to get checked for FH. Finding FH early in relatives allows treatment before damage builds up.

Pregnancy planning: If you might become pregnant, review FH medicines in advance since some aren’t safe in pregnancy. Your team can plan safer options and timing.

Imaging when needed: Ask about tests like coronary artery calcium scoring or carotid ultrasound if your risk is uncertain. Imaging can reveal early artery changes in FH and refine your plan.

Limit alcohol: Keep alcohol moderate if you drink at all. Lower intake supports blood pressure and weight, which matter in FH.

Premature heart disease: In familial hypercholesterolemia, coronary arteries can narrow years earlier than in the general population. This raises the chances of chest pain and heart attack in early or mid‑adulthood.

Early heart attack: Heart attacks may occur decades earlier than average, sometimes without much warning. Risk is higher when LDL has been very high since childhood.

Angina and limits: Chest pressure or tightness with activity can appear at a younger age. Some slow down or avoid exertion because of discomfort or shortness of breath.

Stroke risk: In familial hypercholesterolemia, cholesterol buildup can affect neck and brain arteries. This increases the chance of a transient ischemic attack or stroke.

Peripheral artery disease: Narrowing in leg arteries can cause calf pain when walking and cold feet. Cuts or sores on the legs and feet may heal slowly.

Aortic valve narrowing: In familial hypercholesterolemia, cholesterol can thicken the aortic valve over time. This can lead to chest pain, fainting, or breathlessness with exertion.

Tendon xanthomas: Firm, painless lumps can develop on the Achilles or hand tendons. They may limit flexibility or cause soreness during activity.

Corneal arcus: A pale or gray ring can appear around the colored part of the eye at a young age. It does not affect vision but signals long-standing high cholesterol.

Heart-healthy eating: Choose mostly vegetables, fruits, beans, whole grains, nuts, and fish. Swap butter and processed meats for olive oil and lean proteins. Limit foods high in saturated fat and avoid trans fats.

Soluble fiber: Oats, barley, beans, lentils, and psyllium form a gel in the gut that traps some cholesterol. Regular intake can modestly lower LDL. Add fiber slowly and drink enough fluids to prevent bloating.

Plant sterols/stanols: Fortified yogurts, spreads, or supplements with plant sterols can reduce LDL absorption. Use them daily with meals for best effect. Check labels to avoid extra sugars or unwanted additives.

Weight management: If you live with excess weight, gradual loss can help improve LDL and triglycerides. Even a small, steady loss can benefit heart health. Seek support if weight changes feel challenging.

Physical activity: Aim for regular aerobic movement like brisk walking, cycling, or swimming most days. Add simple strength exercises 2–3 times a week to support metabolism. Start low and build up as you feel able.

Smoking cessation: Quitting smoking quickly improves blood vessel health and lowers heart attack risk. Nicotine replacement or counseling can boost success. Avoid secondhand smoke where possible.

Alcohol moderation: If you drink alcohol, keep it light and occasional. Too much alcohol can raise triglycerides and strain the heart. Some may choose not to drink at all for heart health.

Dietitian support: A registered dietitian can tailor a plan to your preferences, culture, and budget. Structured programs, like medical nutrition therapy, can help you build lasting habits. Ask for a referral if you need one.

Family screening: Because FH runs in families, encourage relatives to get their cholesterol checked. Early identification lets loved ones start care sooner. Genetic counseling may help families understand results and next steps.

Stress and sleep: Poor sleep and ongoing stress can nudge cholesterol and blood pressure in the wrong direction. Aim for a steady sleep schedule and simple stress relievers, like walks or breathing exercises. Seek help if sleep problems persist.

Regular monitoring: Keep up with cholesterol checks to track how lifestyle changes affect LDL. Results can guide adjustments to your plan. Share your numbers with your care team to fine-tune treatment.

High-intensity statins: Atorvastatin or rosuvastatin are usually the first step and can lower LDL by 50% or more. They are taken daily; muscle aches and mild liver test changes can occur, and they should be avoided during pregnancy.

Ezetimibe: This add-on pill blocks cholesterol absorption in the gut and generally lowers LDL by about 15–25%. It is often paired with a statin or used alone if statins aren’t tolerated.

PCSK9 inhibitors: Alirocumab and evolocumab are self-injected antibodies that can drop LDL an additional ~50–60%. Doses are given every 2–4 weeks, and mild injection-site reactions are the most common side effect.

Inclisiran: This small interfering RNA shot lowers LDL by roughly 50% by dialing down a liver protein that raises LDL. It is given on day 1, at 3 months, then every 6 months, which many find convenient.

Bempedoic acid: An oral option that can reduce LDL by about 15–20%, especially helpful if statins cause side effects. It may raise uric acid and rarely increase tendon problems, so monitoring is advised.

Bile acid binders: Cholestyramine, colesevelam, or colestipol lower LDL by 15–20% by trapping bile acids in the gut. They can cause bloating or constipation and may affect absorption of other medicines, so timing doses apart helps.

Lomitapide for HoFH: For homozygous familial hypercholesterolemia, this capsule can markedly lower LDL when standard therapies aren’t enough. It requires careful liver monitoring and a low-fat diet due to risk of liver fat buildup and stomach upset.

Evinacumab for HoFH: This monthly IV infusion lowers LDL even when LDL-receptor activity is very low. It is used in specialty care centers for people with homozygous familial hypercholesterolemia whose LDL remains high despite other treatments.