How to Successfully Check for Possible Familial Hypercholesterolaemia in Primary Care

How to Successfully Check for Possible Familial Hypercholesterolaemia in Primary Care

About Familial Hypercholesterolaemia

Familial hypercholesterolaemia (FH) is a genetic condition that manifests with significantly elevated levels of low-density lipoprotein (LDL) cholesterol and a heightened risk of cardiovascular diseases. Early diagnosis and management in primary care are crucial to prevent complications.

Clinical Evaluation

  1. Family History: Collect detailed information on:
    • First-degree relatives with premature coronary artery disease (men <55 years, women <60 years).
    • Family members known to have high cholesterol levels or diagnosed FH.
  2. Personal Medical History: Investigate for:
    • History of premature cardiovascular events.
    • Persistent high cholesterol levels.
    • Presence of tendon xanthomas or corneal arcus before age 45.
  3. Physical Examination: Inspect for signs such as:
    • Tendon xanthomas: Yellowish cholesterol deposits in tendons, especially in the Achilles tendon. May be found in the dorsum (knuckles) of the hands. Usually appear in people with heterozygous FH from 20 years of age onwards, but present in homozygous FH from childhood.
    • Corneal arcus: A greyish ring around the cornea, particularly in younger patients.
    • Eyelid xanthelasma: Less specific than tendon xanthoma.

Checking for Secondary Causes

Before diagnosing FH, it’s essential to rule out secondary causes of elevated cholesterol:

  1. Diabetes Mellitus: Screen for diabetes, which can cause dyslipidemia.
  2. Hypothyroidism: Evaluate thyroid function tests (TSH and free T4) to exclude hypothyroidism.
  3. Liver Diseases: Check liver function tests to rule out liver disorders that can affect cholesterol levels.
  4. Nephrotic Syndrome: Examine kidney functions (serum creatinine, urine protein) to exclude nephrotic syndrome.
  5. Medications: Review current medications that may elevate cholesterol levels, such as corticosteroids, thiazide diuretics, and beta-blockers.

Laboratory Tests

  1. Lipid Profile: Assess fasting lipid levels:
    • Elevated LDL levels, typically >190 mg/dL (4.9 mmol/L).
    • Also evaluate total cholesterol and triglyceride levels.
  2. Genetic Testing: Consider genetic testing if FH is highly suspected to identify specific gene mutations.

Risk Assessment Tools

  1. Simon Broome Criteria: Classifies FH as “definite” or “possible” based on cholesterol levels, family history, and clinical signs.
  2. Dutch Lipid Clinic Network Score: Combines family history, patient history, clinical signs, and cholesterol levels into a scoring system to estimate FH probability. Classifies FH likelihood as “Unlikely,” “Possible,” “Probable,” or “Definite.”
  3. Welsh Lipid Score: Not on the NICE CKS but is a modification of the Dutch Lipid Score that allows the use of Treated or Untreated LDL-C values below 4.0.

Management

  1. Lifestyle Modifications: Recommendations include:
    • Heart-healthy diet.
    • Regular physical activity.
    • Smoking cessation.
  2. Pharmacological Treatment: Initiate statins as the primary treatment. Consider additional medications like ezetimibe or PCSK9 inhibitors depending on cholesterol levels and risk factors.
  3. Referral to Specialists: Patients with confirmed or suspected FH should be referred to specialists. Family screening should also be encouraged.

Follow-Up

  1. Regular Monitoring: Periodically monitor lipid levels and adjust treatment as required.
  2. Family Screening: Recommend cholesterol testing and genetic screening for first-degree relatives.

Flowchart illustrating Evaluation Process in Primary Care

The following flowchart is a summary of the key guidance in the NICE CKS on evaluating possible familial hypercholesterolaemia. Please refer to the full CKS for details.

Summary Flowchart for Evaluating Suspected Familial Hypercholesterolaemia

If you have enjoyed this summary, why not look at our other CPD & dummy guides for added learning. Click here for access.


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M Moyo

Founder of GP Pharmacy Club. Clinical Pharmacist working in GP Primary Care. Experienced community pharmacist. Independent Prescriber.

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