Hyperlipidaemia

Medicine > Endocrine & metabolic

Background knowledge 🧠

Definition

Hyperlipidaemia is a condition characterised by elevated levels of lipids in the blood, including cholesterol and triglycerides.
It is a major risk factor for cardiovascular diseases.
Commonly classified into primary (genetic) and secondary (lifestyle or other medical conditions) causes.

Epidemiology

Prevalence increases with age.
Higher prevalence in developed countries due to lifestyle factors.
Affects both men and women, though men are at higher risk earlier in life.
Significant public health issue in the UK, contributing to cardiovascular morbidity and mortality.

Pathophysiology

Pathophysiology involves lipid metabolism abnormalities leading to atherosclerosis.
Elevated LDL-C and triglycerides contribute to plaque formation in arteries.
Reduced HDL-C levels impair reverse cholesterol transport.

Aetiology

Primary hyperlipidaemia: genetic conditions like familial hypercholesterolemia.
Secondary hyperlipidaemia: caused by lifestyle factors (diet, physical inactivity), and medical conditions (diabetes, hypothyroidism, nephrotic syndrome).

Types

Hypercholesterolemia: elevated cholesterol levels, primarily LDL-C.
Hypertriglyceridemia: elevated triglyceride levels.
Mixed hyperlipidaemia: combination of elevated cholesterol and triglycerides.
Low HDL-C levels.

Clinical Features 🌡️

Symptoms

Often asymptomatic, detected through routine blood tests.
Xanthomas: deposits of fat under the skin.
Xanthelasma: cholesterol deposits around the eyelids.
Corneal arcus: cholesterol deposits in the cornea.
Pancreatitis in severe hypertriglyceridemia.

Signs

Elevated serum cholesterol and triglycerides on blood tests.
Tendon xanthomas.
Lipemia retinalis: creamy appearance of retinal blood vessels in severe cases.
Atherosclerotic cardiovascular disease.
Evidence of metabolic syndrome (obesity, hypertension, insulin resistance).

Investigations 🧪

Tests

Lipid profile: total cholesterol, LDL-C, HDL-C, triglycerides.
Fasting blood glucose and HbA1c: to assess for diabetes.
Thyroid function tests: to rule out hypothyroidism.
Liver function tests: to rule out hepatic causes.
Renal function tests: to assess for nephrotic syndrome.
Genetic testing if familial hypercholesterolemia is suspected.

Management 🥼

Management

Lifestyle modifications: diet (reduce saturated fats, trans fats), exercise, weight loss.
Pharmacotherapy: statins (first-line), ezetimibe, PCSK9 inhibitors for LDL-C reduction.
Fibrates or omega-3 fatty acids for hypertriglyceridemia.
Niacin in specific cases to increase HDL-C.
Regular monitoring of lipid levels and cardiovascular risk assessment.
Refer to dietitian or lipid specialist for complex cases.

Complications

Atherosclerotic cardiovascular disease: coronary artery disease, stroke, peripheral artery disease.
Pancreatitis in severe hypertriglyceridemia.
Metabolic syndrome.
Liver disease: non-alcoholic fatty liver disease.
Chronic kidney disease.

Prognosis

Depends on control of lipid levels and management of associated risk factors.
Effective management can significantly reduce cardiovascular risk.
Lifestyle changes are crucial for long-term prognosis.
Genetic hyperlipidaemia requires lifelong management.
Regular follow-up and adherence to treatment improve outcomes.

Key Points

Hyperlipidaemia is a major risk factor for cardiovascular disease.
Regular screening and early detection are essential.
Combination of lifestyle modifications and pharmacotherapy is most effective.
Statins are the first-line treatment for lowering LDL-C.
Monitoring and managing associated risk factors is crucial for reducing overall cardiovascular risk.
Refer to UK guidelines for specific management protocols.

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