HNY Policy and Pathway Repository - Humber

Guidance on referring patients to the Familial Hypercholesterolaemia Identification and Cascade Screening Service in compliance with the NICE guideline (CG71): “Identification and management of Familial Hypercholesterolaemia”, published in August 2008.

The dedicated FH identification and cascade screening service will involve a multidisciplinary approach which would identify majority of the undiagnosed FH patients within the region through specialist lipid clinics within 4 main Trusts including Calderdale, Hull, Leeds and York Hospitals.

Primary care and cardiology services would refer patients with possible FH to the lipid clinics for assessment and entry into a care pathway for DNA diagnosis and family cascade testing, if the clinical diagnosis of FH is confirmed. 

Affected family members identified by cascade testing will be referred to a lipid clinic within the CCG wide network for assessment and initial management, with an on-going management plan agreed with primary care.

Prior to referral bloods tests need to be done - Total Cholesterol, Triglycerides (TG), High Density lipoprotein (HDL) and Low Density lipoprotein (LDL). Renal panel (U&E’S), Fasting glucose or HbA1c, Liver function tests (LFT’S) and Thyroid function tests (TFT’s) to exclude secondary causes of high cholesterol.

The NICE FH Clinical Guidelines 71 contains key recommendations on the identification of patients with heterozygous FH and their relatives using cascade testing and their subsequent management:

• Healthcare professionals should consider the possibility of FH in adults with raised cholesterol (total cholesterol typically greater than 7.5 mmol/l), especially when there is a personal or a family history of premature coronary heart disease.
• All individuals with FH should be referred to a specialist with expertise in FH for confirmation of diagnosis and initiation of cascade testing.
• Cascade testing using a combination of lipid concentration measurement and DNA testing should be used to identify relatives of index cases with a clinical diagnosis of FH.
• Children and young people diagnosed with, or being investigated for a diagnosis of, FH should be referred to a specialist with expertise in FH in an appropriate child focused setting.
• All individuals and families with FH should be offered individualised nutritional advice from a healthcare professional with specific expertise in nutrition.
• Prescription of a potent statin should usually be considered when trying to achieve a reduction of LDL-C concentrations of > 50% (from baseline).
• All treated individuals with FH should have a regular structured review carried out at least annually.
• The establishment and use of a nationwide family based follow-up system is recommended to enable comprehensive identification of affected individuals.

For referral of patients from primary care, assesment of patients needs to be completed using the Simon Broome criteria:

Definite familial hypercholesterolaemia is defined as criteria a) PLUS b) OR c)   

a) Total cholesterol > 6.7 mmol/l or LDL cholesterol above 4.0 mmol/l in a child < 16 years or Total cholesterol >7.5mmol/l or LDL cholesterol above 4.9 mmol/l in an adult. (Levels either pre-treatment or highest on treatment)

b) Tendon xanthomas in patient, or in 1st degree relative (parent, sibling, child), or in 2nd degree relative (grandparent, uncle, aunt)

OR

c) DNA-based evidence of an LDL receptor mutation or familial defective apo B-100

Possible familial hypercholesterolaemia is defined as criteria a) above PLUS one of d) OR e)

d) Family history of premature myocardial infarction: (below age of 50 in 2nd degree relative or below age 60 in 1st degree relative)

e) Family history of raised cholesterols:>7.5 mmol/l in adult 1st or 2nd degree relative or> 6.7 mmol/l in child or sibling under 16 

Referrals should be based on assessment using Simon Broome Criteria (above), clinical examination and blood tests.

Bloods tests including: Total Cholesterol, Triglycerides (TG), High Density lipoprotein (HDL) and Low Density lipoprotein (LDL).

Renal panel (U&E’S), Fasting glucose or HbA1c, Liver function tests (LFT’S) and Thyroid function tests (TFT’s) to exclude secondary causes of high cholesterol.

If patients are identified as possible FH using criteria outlined above they need to be referred to the lipid clinic in Hull and East Yorskhire hospitals NHS Trust.

Referrals

Please refer patients to the lipid clinic via NHS e-Referral:

Speciality: Endocrinology

Clinic Type: Lipid Disorders

Please highlight that these patients have been diagnosed with possible/definite FH. No specific referral form needs to be completed, referral letter should include information as listed below.

• Referral letter/email needs to include relevant patient history, clinical details and reports of any relevant recent blood tests.

Primary care pathway

Frequently asked questions

Clinical guidance document