Hyperlipidaemia

Definition | Aetiology | Pathophysiology | Risk Factors | Signs and Symptoms | Investigations | Management

Definition

Hyperlipidaemia is a metabolic disorder characterised by elevated levels of lipids (cholesterol, triglycerides) in the blood, increasing the risk of cardiovascular disease.

Aetiology

  • Primary hyperlipidaemia: genetic disorders affecting lipid metabolism (e.g., familial hypercholesterolaemia).
  • Secondary hyperlipidaemia: caused by lifestyle factors (diet, obesity, sedentary lifestyle) or underlying conditions (e.g., diabetes mellitus, hypothyroidism, chronic kidney disease, nephrotic syndrome).
  • Drug induced: corticosteroids, thiazide diuretics, beta-blockers, antipsychotics.

Pathophysiology

  • Disruption of lipid metabolism leads to accumulation of low-density lipoprotein (LDL) and triglycerides in circulation.
  • Elevated LDL cholesterol promotes atherosclerosis by depositing cholesterol in arterial walls, leading to plaque formation and increased cardiovascular risk.
  • High density lipoprotein (HDL) has a protective effect by removing excess cholesterol from peripheral tissues.

Risk Factors

  • Family history of hyperlipidaemia or premature cardiovascular disease.
  • Obesity and metabolic syndrome.
  • Poor diet high in saturated fats and refined carbohydrates.
  • Physical inactivity.
  • Smoking and excessive alcohol consumption.
  • Underlying conditions (e.g., diabetes, hypothyroidism, renal disease).

Signs and Symptoms

  • Asymptomatic: often detected incidentally through routine lipid screening.
  • Cardiovascular complications: angina, myocardial infarction, stroke.
  • Cutaneous signs: xanthomas (lipid deposits in tendons), xanthelasma (lipid deposits around the eyes).
  • Corneal arcus: white or grey ring around the cornea in younger individuals.
  • Pancreatitis: in cases of severe hypertriglyceridaemia (>10 mmol/L).

Investigations

  • Lipid profile: measures total cholesterol, LDL, HDL, and triglycerides.
  • Fasting or non fasting lipids: fasting preferred if hypertriglyceridaemia is suspected.
  • Thyroid function tests: assess for hypothyroidism as a secondary cause.
  • Liver function tests: to assess liver health before initiating lipid-lowering therapy.
  • HbA1c and fasting glucose: screen for diabetes mellitus.
  • Renal function tests: assess for chronic kidney disease.

Management

1. Lifestyle Modifications:

  • Dietary changes: reduce saturated fats, trans fats, and refined sugars; increase fibre and omega-3 fatty acids.
  • Weight loss: achieve and maintain a healthy BMI.
  • Regular physical activity: at least 150 minutes of moderate intensity exercise per week.
  • Smoking cessation: reduces cardiovascular risk.
  • Limit alcohol intake: especially in hypertriglyceridaemia.

2. Pharmacological Therapy:

  • Statins (e.g., atorvastatin, simvastatin): first line for LDL reduction and cardiovascular risk reduction.
  • Ezetimibe: adjunct therapy if statins are insufficient or not tolerated.
  • PCSK9 inhibitors (e.g., evolocumab, alirocumab): for high-risk patients with familial hypercholesterolaemia.
  • Fibrates (e.g., fenofibrate): for severe hypertriglyceridaemia to prevent pancreatitis.
  • Omega-3 fatty acids: useful in hypertriglyceridaemia.

3. Monitoring:

  • Repeat lipid profile 6–12 weeks after initiating therapy, then annually.
  • Monitor liver enzymes and muscle symptoms in patients on statins. Repeat LFT in 2-3 months.

4. Referral:

  • Lipid clinic: for familial hypercholesterolaemia or refractory hyperlipidaemia.
  • Endocrinology: if secondary causes such as hypothyroidism or metabolic syndrome require specialist input.
  • Cardiology: if there is established cardiovascular disease or high cardiovascular risk.