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Health condition

Familial hypercholesterolaemia

Familial hypercholesterolaemia (FH) is an inherited condition causing very high LDL cholesterol from birth. Untreated it dramatically raises early heart attack risk - treated, life expectancy is essentially normal.

Why trust this guide

  • 01

    Editorial team

    Written by our editorial team from the UK sources listed on each page.

  • 02

    Sourced from guidance

    Checked against current NHS and UK specialist society guidance at the time of review.

  • 03

    Current for 2026

    Reviewed on 2026-09-27 with the next review scheduled for 2027-09-27.

Key facts

The essentials at a glance.

The symptoms to recognise, when to seek help, which specialist to see, and what treatment usually involves.

  • Clues: LDL above 4.9, total cholesterol above 7.5, tendon xanthomas, or heart attacks before 55-60 in the family

  • Seek assessment promptly if you or a close relative fit this pattern - each child of an affected parent has a 50% chance of inheriting it

  • Specialist: a consultant cardiologist usually leads assessment and treatment

  • Treatment combines high-intensity statins with ezetimibe and, where needed, PCSK9 inhibitors or inclisiran, plus cascade testing of relatives

Understanding the condition

What it is and what happens next.

What causes it, how it is diagnosed, and the treatment routes available in the UK.

What it is and how it feels

FH affects roughly 1 in 250 people, most of whom remain undiagnosed. A faulty gene - usually affecting the LDL receptor - means cholesterol is cleared poorly from the blood, so arteries are exposed to high LDL from childhood. This lifelong exposure, not the number alone, is what makes FH more dangerous than ordinary high cholesterol.

Diagnosis and treatment routes

Diagnosis uses clinical criteria and genetic testing, which also unlocks cascade screening so affected relatives are found early. Modern combination therapy brings LDL to target in most patients, and starting treatment early in adult life largely neutralises the inherited risk. In many parts of the UK, routine NHS referrals for this kind of problem currently take 20-45+ weeks, whereas an initial appointment with a private consultant is typically available within around two weeks.

Seeing a specialist

Who to see, and how quickly you can be seen.

The specialist for this condition is usually a consultant cardiologist. Your GP can refer you on the NHS, or you can arrange a private consultation directly.

A quiet reminder

This guide is for information, not medical advice.

Your GP knows your history and can tell you which parts apply to you. If in doubt, see them - and seek urgent care for any of the emergency symptoms described above.

Frequently asked

Common questions about Familial hypercholesterolaemia.

Quick, plain-English answers to what people ask us most.

  • What is familial hypercholesterolaemia?

    Familial hypercholesterolaemia is a diagnosis used by clinicians to describe a specific pattern of symptoms or findings. It's usually confirmed after a proper assessment, since several conditions can look similar at first.

  • Why does familial hypercholesterolaemia happen?

    Familial hypercholesterolaemia can arise from several different underlying mechanisms, and in many cases more than one factor contributes. Identifying likely causes usually forms part of the initial specialist work-up.

  • How would I know if I have familial hypercholesterolaemia?

    Symptoms of familial hypercholesterolaemia vary from person to person and can range from mild and easily missed to significant enough to affect daily life. Because overlapping conditions can produce similar symptoms, a clinical assessment is the most reliable way to confirm what's actually going on.

  • Can familial hypercholesterolaemia cause complications?

    Most cases of familial hypercholesterolaemia are manageable with appropriate care, though, like many conditions, it can occasionally lead to complications if left unassessed or untreated. Your clinician can give you a realistic sense of the risks based on your specific presentation.

  • Is familial hypercholesterolaemia hereditary or genetic?

    Many forms of familial hypercholesterolaemia have a genetic or inherited component, and some are linked to specific gene changes that can run in families. If there's a family history, genetic counselling can help clarify the pattern of inheritance and whether relatives might benefit from testing.

  • Is there a cure for familial hypercholesterolaemia?

    Familial hypercholesterolaemia can often be managed effectively, and in some cases prevented or reversed, with the right combination of lifestyle changes, medication or other targeted treatment. A specialist will tailor the approach to your circumstances rather than applying a one-size-fits-all plan.

  • How is familial hypercholesterolaemia treated?

    Treatment for familial hypercholesterolaemia is usually built around the severity of your symptoms and any underlying cause found on assessment, and may involve lifestyle measures, medication, physiotherapy or, in some cases, a procedure. Your specialist will discuss the pros and cons of each option with you before agreeing a plan.

  • What's the outlook for familial hypercholesterolaemia?

    The outlook for familial hypercholesterolaemia varies widely depending on the underlying cause, how early it's diagnosed, and how it responds to treatment. Many people see significant improvement with appropriate care, and your specialist can give you a more personalised timeframe once they've reviewed your case.

  • Could familial hypercholesterolaemia be confused with another condition?

    Because several conditions can share similar symptoms to familial hypercholesterolaemia, clinicians often consider a short list of possibilities before confirming a diagnosis. This is one of the main reasons a proper assessment, and sometimes targeted tests, matters more than relying on symptoms alone.

  • When should I see a doctor about familial hypercholesterolaemia, and how quickly can I be seen privately?

    It's worth seeking medical advice if symptoms of familial hypercholesterolaemia are persistent, worsening, or affecting your daily life, rather than waiting for them to resolve on their own. NHS routine referrals for this kind of assessment can take anywhere from around 20 to 45+ weeks, whereas private consultants typically offer an appointment within about two weeks.