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Specialist Clinics

Familial hypercholesterolaemia – Lipid clinic

  • Introduction

    This guideline relates to familial hypercholesterolaemia (FH) in paediatric patients. FH is a common genetic condition causing high LDL-cholesterol from birth. Early diagnosis and treatment are essential to decrease the risk of premature heart disease. Please refer to The Royal Children's Hospital Clinical Practise Guideline: Hypocholesterolaemia

    When to refer

    • Patients <18 years of age
    • High suspicion of FH

    Initial assessment should be completed prior to referral (as below)

    Wait time for appointments 

    Specialist Clinic wait times 

    Services available closer to home

    Alternative paediatric lipid clinics available in Victoria:

    • Monash Heart Hospital

    Referral criteria/required information

    • Detailed history and assessment, including family history of FH or premature coronary artery disease
    • Growth charts, including current height and weight
    • Blood tests:
      • Lipid profile (ideally fasting, preferably two measurements)
      • Additional investigations (UEC, LFT, CK, TFTs, HbA1C, Lp(a))
    • Arrange genetic testing if meets criteria
    • Outline any treatment that has been offered or tried (e.g., lifestyle advice, statin therapy)
    • All siblings of the patient should have a screening lipid profile and be referred if indicated

    How to refer

    Specialist Clinics referral

    Please complete the above and submit via:

    • Facsimile (03) 9345 5034 or
    • Email screferrals@rch.org.au
    • Urgent referral or clinical query if features suggest of homozygous FH or other urgent concerns, discuss with Metabolic doctor on call via RCH switchboard (03) 9345 5522.

    Information for families

    Please refer to the RCH Kids Health Info fact sheet on FH for further information.

    Resources and links

    Acknowledgements

    The development of this guideline was coordinated by the Department of Metabolics (Dr Rebecca Quin). Guideline reviewed in August 2025.