Hypercholesterolaemia

Question 1

Definition of Hypercholesterolaemia

Answer 1

• Hypercholesterolaemia is an elevation of total cholesterol and/or low-density lipoprotein (LDL)-cholesterol or non-high-density lipoprotein (HDL)-cholesterol as the subtraction of HDL-cholesterol from total cholesterol in the blood.

Question 2

Aetiology of Hypercholesterolaemia

Answer 2

• Gene mutations
• Sedentary lifestyle
• Excessive consumption of saturated fats and trans-fatty acids
• Drugs (i.e. high does thiazide diuretics, oral oestrogens, glucocorticoids, anabolic steroids, antipsychotics)

Question 3

Signs and Symptoms of Hypercholesterolaemia

Answer 3

• Signs/symptoms include FHx of dyslipidaemia, Hx of CV disease, consumption of saturated fats and trans-fatty acids, high BMI and xanthelasmas.
• Risk factors include diabetes mellitus, high BMI, hyperthyroidism and cholestatic liver disease.

Question 4

Pathophysiology of Hypercholesterolaemia

Answer 4

• Develops because of abnormal lipoprotein metabolism, mainly reduction of LDL receptor expression or activity leading to diminished hepatic clearance of LDL-cholesterol from plasma.

Question 5

Investigation of Hypercholesterolaemia

Answer 5

• Lipid profile
  
  • Total cholesterol >5.18mmol/L
  • LDL-cholesterol >2.59mmol/L
  • Non-HDL-cholesterol >3.367mmol/L
  • HDL-cholesterol <1.04mmol/L
  • Triglycerides >3.88mmol/L