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Referral
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Familial Hypercholesterolaemia (FH)
Key Messages
Patients with undiagnosed/untreated familial hypercholesterolaemia have a very high risk of MI. Untreated 50% of men and 30% of women will have had an MI by age 60 (BJGP 2009;59:777).
Scope
Patients with suspected Familial Hypercholesterolaemia
Out of Scope
Patients with a fasting TG greater than 2.3 – see Appendix 4 on attached Referral pathway
Referral Criteria - refer the person to a lipid clinic if:
Use the Dutch Lipid Clinic Network Score (DLCNS) to make a clinical diagnosis of FH.
Note, an LDL-cholesterol result (rather than total cholesterol) is required to generate this score alongside other clinical features and details of family history.
To aid completion of DLCN, please see attached Age specific 95th centile LDL – cholesterol values.
Referral (see attached pathway)
Refer the person to a lipid clinic if:
- they either have a DLCN score greater than 5
- or they meet any of the following criteria (regardless of family history):
- Total cholesterol greater than 9.0mmol/L, or
- LDL-C greater than 6.5mmol/L and / or non-HDL-C greater than 7.5mmol/L
- Total cholesterol greater than 9.0mmol/L, or
If you feel your patient needs a specialist assessment for suspected FH but doesn’t quite meet the above referral criteria (for example, DLCN score of 4, but with significant family history of premature atherosclerotic cardiovascular disease), then it is recommended that you submit a referral as it will still be considered.
Referral Requirements:
1. Investigations prior to referral - Fasting Lipids, Liver function tests, TFT, Renal, HbA1c
2. Secondary causes excluded
3. Completed Family history questionnaire – please add a comment if family history is not possible to obtain
History
Prior to referral to the Lipid Clinic for suspected Familial Hypercholesterolaemia, it is essential that a family history questionnaire is completed, and the answers attached to the referral.
Familial Hypercholesterolemia Family History Questionnaire
We have reviewed your cholesterol results and would like some information on your family history to help inform your treatment. Please answer the following questions:
1. Have any of your first-degree blood relatives (mother, father, brother, or sister) had a heart attack under the age of 60?
If Yes, which relative (mention how they are related to you) and how old were they when they had the heart attack?
2. Have any of your second-degree blood relatives (grandparents, aunts, uncles, nephews, nieces and half-brothers and half-sisters) had a heart attack aged 50 or under?
If Yes, which relative (mention how they are related to you) and how old were they when they had the heart attack?
Examination
Clinical features of FH include:
- Tendon xanthomata
- Xanthelasma
- Corneal Arcus
Differential Diagnosis
Secondary causes of raised cholesterol include:
- Uncontrolled diabetes mellitus
- Obesity – inactivity, diet
- Excess alcohol consumption
- Untreated hypothyroidism
- Medications e.g., thiazide diuretics and ciclosporin
- Patients with known CVD who cannot be prescribed a statin (e.g., contraindicated, intolerance, unavoidable drug interaction) should be referred urgently.
Please do not refer a patient on the basis of one abnormal lipid profile. Always:
- repeat on a FASTING blood sample
AND
- exclude/manage potential secondary causes.
Investigations prior to referral:
- Fasting Lipids
- Liver function tests
- TFT
- Renal
- HbA1c
Secondary causes of raised cholesterol include:
- Uncontrolled diabetes mellitus
- Obesity – inactivity, diet
- Excess alcohol consumption
- Untreated hypothyroidism
- Medications e.g., thiazide diuretics and ciclosporin
1. Lifestyle advice
Advise lifestyle changes (and weight loss if required); the majority of patients’ lipid profiles improve following three months of lifestyle modifications
- Dietary changes
- Increase exercise
- Reduce alcohol intake if excessive
2. Start treatment in primary care:
- aim to reduce LDL by 50% or more by titrating high intensity statins
- consider other therapies (see formulary for guidance)
- manage other CVD risk factors
3. Refer to secondary care for further input and consideration of genetic testing/ cascade testing (see attached pathway).
Referral
Refer the person to a lipid clinic if:
- they either have a DLCN score greater than 5
- or they meet any of the following criteria (regardless of family history):
- Total cholesterol greater than 9.0mmol/L, or
- LDL-C greater than 6.5mmol/L and / or non-HDL-C greater than 7.5mmol/L
- Total cholesterol greater than 9.0mmol/L, or
Referral Requirements:
1. Investigations prior to referral - Fasting Lipids, Liver function tests, TFT, Renal, HbA1c
2. Secondary causes excluded
3. Completed Family history questionnaire – please add a comment if family history is not possible to obtain
Referrals without this information may be returned.
Once a referral is received it will be triaged by a member of the Lipid team. The patient will either be offered an outpatient ‘face-to-face’ appointment or assigned to our virtual clinic.
Referral Instructions
e-Referral Service Selection
Specialty: Endocrinology
Clinic Type: Lipid Clinic
Service: DRSS-Eastern and Northern-Endocrinology-Devon ICB- 15N
Referral Form
Pathway Group
This guideline has been signed off on behalf of NHS Devon
Publication date: January 2023
Updated: January 2024
