Lipid disorders
Disclaimer
These guidelines have been produced to guide clinical decision making for general practitioners (GPs). They are not strict protocols. Clinical common-sense should be applied at all times. These clinical guidelines should never be relied on as a substitute for proper assessment with respect to the particular circumstances of each case and the needs of each patient. Clinicians should also consider the local skill level available and their local area policies before following any guideline.
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Introduction
High impact lipid disorders in children and adolescents require a coordinated, family centred approach to ensure early diagnosis and effective management of children and adolescents with high impact lipid disorders.
The Perth Children’s Hospital (PCH) Paediatric Centre for High Impact Lipid Disorders (CHILD) provides two services:
- Cascade testing of children and adolescents with a parent or first degree relative with confirmed Familial Hypercholesterolaemia (FH) or elevated Lipoprotein(a) [Lp(a)]
- Clinical assessment and management of children and adolescents with confirmed or probable Familial Hypercholesterolaemia (FH), elevated Lp(a) or severe hypertriglyceridaemia (HTG)
PCH Outpatient Services Lipid Disorder Clinics will support children and adolescents across a multidisciplinary team including a Paediatrician, Nurse Practitioner, Clinical Nurse Specialist, Dietitian, and Pharmacist.
PCH cascade testing
Cascade testing is the process of extending testing to individuals, including children at risk within a family for inheriting a pathogenic (disease-causing) variant previously identified in a biological relative.
When to refer
CHILD will co-ordinate cascade testing of the following children and adolescents:
- Parent or first-degree relative with Familial Hypercholesterolaemia (FH):
- Pathogenic mutation identified, or
- Dutch Lipid Clinic Network Score (DLCNS) ≥ 6
- Parent or first-degree relative with elevated Lipoprotein (a) [Lp(a)]:
- Lp(a) > 300nmol/L, or
- Lp(a) > 180nmol/L and premature coronary artery disease (CAD)
How to refer
Email: PCH.LipidClinic@health.wa.gov.au with the following information:
Parent details
- First name
- Surname
- Phone (mobile)
- Email
- Relevant information of the index case
The PCH Clinical Nurse Specialist (Cascade Testing) will contact the family to discuss and arrange testing.
PCH lipid disorder clinic
When to refer
Children and adolescents with any of the following:
- Definite diagnosis of FH (pathogenic FH mutation identified in patient).
- LDL-cholesterol level > 5mmol/L in absence of parental history of hypercholesterolaemia or premature CAD and in whom secondary causes of hypercholesterolaemia have been excluded, including:
- hypothyroidism
- renal disease
- liver disease
- medications
- LDL cholesterol level > 4mmol/L with parental history of hypercholesterolaemia or premature CAD and in whom secondary causes of hypercholesterolaemia have been excluded.
- LDL cholesterol level > 3.5mmol/L with a parent with pathogenic FH mutation.
- Isolated elevated Lipoprotein (a) [Lp(a)] > 200nmol/L
- Isolated elevated Lp(a) >100nmol/L, with
- significant co-morbidity (e.g. type 1 or type 2 diabetes, end-stage renal failure), or
- family history of premature CAD
- Severe hypertriglyceridaemia (HTG) >10mmol/L
Pre-referral investigations
1. Cascade testing
- GPs can initiate cascade testing of first- and second-degree relatives (including children) of a FH proband, utilising the MBS item number 73353, citing the affected relatives’ details and gene variant.
- Request a full lipid profile at the time of genetic testing.
2. PCH lipid disorder clinic
- 2 x Lipid profiles (non-fasting acceptable) with LDL-C levels > 3.5mmol/L within 2 months
- Exclude secondary causes of hypercholesterolaemia (U&E’s LFT’s, TFT’s)
Pre-referral management
Please refer to the Australian FH paediatric guideline1
How to refer
1. Cascade testing
Please refer to the information above.
2. PCH lipid disorder clinic
- All internal referrals are received via the WA Health e-Referral system.
- Routine non-urgent referrals from a GP, Nurse Practitioner or a Consultant are made via the Central Referral Service.
- Routine non-urgent referrals from private hospitals are made via the PCH Referral Office.
- Urgent referrals (less than seven days) are made via the PCH Referral Office. Please call PCH Hospital switch on (08) 6456 2222 to discuss with Paediatrician.
Essential information to include in your referral
- Recent investigations and pathology results including:
- 2 x LDL-C levels > 3.5mmol/L within 2 months (non-fasting acceptable)
- Co-morbid diagnoses or past medical history
- Current medications
- Family history of premature CAD (premature CAD is defined as < 55yrs in men, <65 yrs in women)
- Details of confirmed gene variant in first or second degree relative if known, (include name, variant details, state and lab tested)
- Treating clinician of FH parent (if known)
Useful resources
- Familial Hypercholesterolaemia PCH Health Facts
- FH and me PCH Health Facts 0-5 years ,5-12 years ,> 13 years
- FH Blood collection PCH Health Facts
- FH Goals of treatment PCH Health Facts
- Clinician Assist WA - Familial Hypercholesterolaemia (FH)
- Lipoprotein (a) PCH Health Facts
- FH Australia - Voice and support for Familial Hypercholesterolaemia (FH)
References
- Horton AE, Martin AC, Srinivasan S, Justo RN, Poplawski NK, Sullivan D, Brett T, Chow CK, Nicholls SJ, Pang J, Watts GF; FH Australasia Network Consensus Working Group. Integrated guidance to enhance the care of children and adolescents with familial hypercholesterolaemia: Practical advice for the community clinician. J Paediatric Child Health. [Internet]. 2022 Aug;58(8):1297-1312. Available from: https://onlinelibrary.wiley.com/doi/10.1111/jpc.16096
| Reviewer/Team: |
Paediatric Centre for High Impact Lipid Disorders (CHILD) |
Last reviewed: |
December 2025 |
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