Familial Hypercholesterolaemia

Familial Hypercholesterolaemia (FH)

Familial Hypercholesterolaemia (FH) is an inherited condition that causes dangerously high cholesterol levels from an early age. If left untreated, it can lead to early-onset stroke, heart disease, and other vascular complications — sometimes before the age of 50.

At The Royal Buckinghamshire Hospital, we support individuals recovering from strokes and neurological complications related to high cholesterol and cardiovascular disease. Our consultant-led inpatient neurorehabilitation programmes help patients regain independence, improve function, and reduce the risk of future events.

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What Is Familial Hypercholesterolaemia?

FH is a genetic disorder that affects the way the body processes low-density lipoprotein (LDL) cholesterol — often referred to as “bad cholesterol”. As a result, people with FH can have:

• Extremely high LDL levels from birth
• A significantly increased risk of cardiovascular disease
• A higher risk of stroke at a younger age

The condition is inherited in families, meaning first-degree relatives often need to be tested as well.

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Symptoms and Signs

FH often goes unnoticed until a cardiovascular or neurological event occurs. However, some signs include:

• Cholesterol deposits in the skin (xanthomas), tendons, or around the eyes
• Family history of heart attack or stroke at a young age
• Early-onset angina, chest pain, or shortness of breath
• Stroke symptoms (in younger patients), such as:
  • Sudden weakness or numbness
  • Visual or speech difficulties
  • Loss of balance or coordination
  • Confusion or memory issues

Many people with FH feel perfectly healthy until they experience a major event.

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Causes and Risk Factors

FH is caused by a mutation in one of several genes responsible for removing LDL cholesterol from the blood. The most commonly affected genes are:

• LDLR
• APOB
• PCSK9

If one copy of the gene is affected, a person has heterozygous FH, which occurs in about 1 in 250 people. Homozygous FH, where both gene copies are affected, is much rarer but more severe.

Additional stroke and heart risks increase if a person with FH also has:

• High blood pressure
• Smoking history
• Type 2 diabetes
• Poor diet or sedentary lifestyle

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Diagnosis

FH is usually diagnosed using a combination of:

• Lipid blood tests – showing very high LDL levels
• Family history – of premature stroke or heart disease
• Genetic testing – to confirm known mutations
• Clinical criteria – such as the Simon Broome or Dutch Lipid Clinic Network criteria

Early detection is vital to reduce the risk of severe complications.

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FH and Stroke Risk

People with untreated FH are at significantly increased risk of:

• Ischaemic stroke – due to blocked arteries in the brain
• Transient ischaemic attacks (TIAs)
• Early heart attack or coronary artery disease
• Cognitive decline related to long-term vascular damage

Even with medication, some individuals still experience a stroke and need intensive rehabilitation to recover.

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Inpatient Rehabilitation After Stroke

At The Royal Buckinghamshire Hospital, we provide comprehensive neurorehabilitation for patients who have:

• Suffered a stroke related to FH or cardiovascular disease
• Ongoing weakness, speech, or memory problems post-stroke
• Functional decline requiring coordinated therapy and nursing care

Our multidisciplinary rehabilitation programmes include:

• Physiotherapy – to improve mobility, strength, and coordination
• Occupational therapy – to support independence in daily activities
• Speech and language therapy – for communication or swallowing difficulties
• Neuropsychology – for cognitive recovery and emotional wellbeing
• 24/7 nursing support in a calm, specialist rehabilitation setting

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Who We Support

We help adults (18+) who:

• Are recovering from a stroke or TIA related to FH
• Are struggling with fatigue, weakness, or communication after a neurological event
• Need intensive inpatient therapy after hospital discharge
• Want to regain independence and reduce the risk of another stroke

To enquire about availability or make a referral, please call 01296 678800 or contact us online.

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Why Choose The Royal Buckinghamshire Hospital?

• One of the UK’s leading centres for private stroke rehabilitation
• Expertise in complex cases involving genetic and vascular conditions
• Personalised therapy plans based on clinical need and patient goals
• 24/7 care in a peaceful, neuro-specialist inpatient environment
• Trusted by patients, families, and referring clinicians nationwide