“Abnormal blood levels of one or more lipids or lipoproteins”

  • Most common forms
    • ↑ LDL
    • ↓ HDL
    • ↑ Triglycerides
    • ↑ Cholesterol
Risk Factors
  • Primary dyslipidaemia:
    • Gene mutations eg LDLRAP1 mutation
  • Secondary dyslipidaemia:
    • Obesity
    • T2DM
    • Alcoholism
Aetiology
  • Primary dyslipidaemia:
    • Inherited
  • Secondary dyslipidaemia:
    • Acquired
Pathophysiology
  • Primary dyslipidaemia:
    • LDLRAP1 mutation:
      1. ↓ the efficiency of endocytosis of receptor-bound LDL particles
      2. ↓ Clearance of LDL from plasma
      3. ­↑ Macrophage consumption of excess LDL cholesterol
      4. ­↑ Atherosclerosis risk
  • Secondary dyslipidaemia:
    • Obesity & T2DM:
      1. Elevated FFA levels
      2. ↑ Hepatic VLDL-TG secretion
    • Alcoholism:
      1. ↑ Hepatic VLDL secretion
Clinical Presentation
  • High LDL:
    • Tendinous xanthomas at the Achilles
    • Knee tendons and elbows
    • Xanthelasma
    • Arcus corneae
  • High TG:
    • Xanthomas at knees, feet, elbows, and hands
Investigations
  • Bloods:
    • Serum lipid profile- including total cholesterol, TG, HDL, LDL, VLDL
  • Imaging: n/a
  • Special:
    • Screening tests eg if FHx of severe hyperlipidaemia
Management
  • Conservative:
    • Lifestyle Management – exercise & dietary changes
  • Medical:
    • 1st line= Statin eg Lovastatin, Pravastatin.
    • If statins fail, niacin/fibrates used (main aim of management: prevent atherosclerotic CVD)
  • Surgical: n/a
Complications
  • Atherosclerosis
  • Myocardial Infarction
  • Coronary artery disease
  • Acute coronary syndrome
  • Stroke

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