Familial Hypercholesterolaemia (FH)

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 the Simon Broome criteria for possible (‘probable’ on the MDCalc site) or definite FH,
• 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

see attached pathway

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-Western-Endocrinology-Devon ICB-15N

Referral Forms

DRSS Referral Form

Pathway Group

This guideline has been signed off on behalf of NHS Devon

Publication date: January 2023