Hypercholesterolaemia

Question 1

What is hypercholesterolaemia?

Answer 1

Also known as dyslipidaemia.

Refers to raised serum levels of total cholesterol and/or low-density lipoprotein (LDL)-cholesterols or non-HDL-cholesterol in the blood.

Question 2

What causes hypercholesterolaemia?

Answer 2

Primary
- genetic
- familial hypercholesterolaemia (FH)

Secondary:
- hypothyroidism
- nephrotic syndrome
- CKD
- diabetes
- Cushings syndrome
- liver disease
- pregnancy
- obesity
- excess alcohol
- diet
- lifestyle
- pregnancy
- menopause
- medications (e.g. thiazide diuretics, glucocorticoids, ciclosporin)

Question 3

How does hypercholesterolaemia present?

Answer 3

Asymptomatic

In familial hypercholesterolaemia:
- Premature arcus senilis
- Tendon xanthomata
- Xanthelasma (cholesterol deposits on eyelid skin)

Question 4

Investigations for hypercholesterolaemia?

Answer 4

Lipid profile
Fasting blood glucose
Renal function
LFTs
TFTs
QRISK score

Question 5

Management of hypercholesterolaemia?

Answer 5

1st line: Statin (atorvastatin 20mg)

Question 6

Side effects of statin?

Answer 6

Muscle pain
Abdominal pain
Constipation
Headache

Question 7

Monitoring statin?

Answer 7

Measure creatinine kinase
- if pt has significant myalgia
- if it CK is 5-10 times the upper limit of normal, then stop statin

Monitor LFTs
- measure 4-6 wks after initiation
- if ALT and AST are 3 times the upper limit of normal, then statin should be stopped.

Offer ezetimibe if statin contraindicated or cause abnormal blood test results.

Question 8

What is familial hypercholesterolaemia (FH)?

Answer 8

Refers to an inherited condition characterised by high cholesterol concentration in the blood.

Autosomal dominant genetic condition.

Question 9

When is familial hypercholesterolaemia (FH) suspected?

Answer 9

Total cholesterol concentration >7.5 mmol/L

AND/OR

FHx of premature coronary heart disease (CHD)

Question 10

What should you do if you suspect familial hypercholesterolaemia (FH)?

Answer 10

Assess the pt.

Refer to specialist if children and young people (≤15 years)

Take two measurements of low-density lipoprotein (LDL)-cholesterol concentration.
- LDL >13 mmol/L =clinical diagnosis of homozygous FH in adults

• LDL >11 mmol/L =clinical diagnosis of homozygous FH in a young person (≤15 years)

The Simon Broome or the Dutch Lipid Clinic Network criteria
- should be used to make a clinical diagnosis

Exclude secondary hypercholesterolaemia
- renal function
- HbA1c
- U&Es
- LFTs
- TFTs

Question 11

Presentation of familial hypercholesterolaemia?

Answer 11

Tendon xanthomata (specific to FH)
Xanthelasmata
Corneal arcus

Question 12

What should you do with pts with a clinical diagnosis of FH?

Answer 12

Refer to a specialist for confirmation of the diagnosis and initiation of cascade testing.

This involves identification of affected relatives by DNA testing.

Question 13

Management of familial hypercholesterolaemia?

Answer 13

Refer pts at high risk to specialist.
High risk includes:
- CHD
- FHx of premature CHD
- 2 or more CVD RFs e.g. male, smoking, HTN, diabetes

Consider routine referral to cardiologist for possible CHD.

For confirmed heterozygous FH:
- ECG
- baseline bloods
- lifestyle changes
- optimise tx for conditions associated with an increase risk of CVD (e.g. AF, SLE, RA, mental health problems, systemic inflammatory disorders)
- support groups

High-intensity statin
- aim to reduce 50% in LDL
- baseline bloods before starting statin
- lifelong tx
- follow up for efficacy and tolerability
- if contraindicated offer ezetimibe.
- refer to specialist if both drugs are contraindicated