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Hyperlipidaemia

Background knowledge ๐Ÿง 

Definition

  • Hyperlipidaemia is a condition characterized 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.

Aetiology and Pathophysiology

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

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 ๐ŸŒก๏ธ

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 ๐Ÿงช

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 ๐Ÿฅผ

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 hyperlipidaemias require 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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