Overview

• Hyperlipidemia → elevated blood lipid levels (total cholesterol, LDL, triglycerides)
• Aetiology → obesity, diabetes, physical inactivity, hypothyroidism, nephrotic syndrome, alcohol, cholestatic liver disease
• Elevated LDL and reduced HDL → promote atherosclerosis → increased risk of cardiovascular events
• Familial Hypercholesterolaemia (FH)
  • Autosomal dominant inherited disorder
  • Caused by a mutation in the gene coding the LDL receptor
  • Causes early-onset hypercholesterolaemia and hyperlipidaemia, leading to cardiovascular disease in young patients.

Making Diagnosis

Clinical Features:

• Xanthomata → nodular lipid deposits in the skin and tendons
• Xanthelasma → yellow, flat plaques on upper eyelids
• Corneal Arcus → crescentic-shaped opacity at the periphery of the cornea

Investigations:

• Lipid Profile → total cholesterol, HDL, LDL and trigylcerides
• Tests for Secondary Causes → HbA1c/Fasting glucose, TSH, LFTs, urinalysis, LFTs
• QRISK2 → screens for risk of cardiovascular disease.

Management Plan