Hyperlipidaemia

Question 1

What causes hyperlipidaemia?

Answer 1

raised cholesterol/TAG

Question 2

What is the difference between primary and secondary hyperlipidaemia?

Answer 2

Primary - no other disease

Secondary - caused by another disease

Question 3

What are the 5 main causes of secondary hyperlipidaemia?

Answer 3

• Diabetes
  
  • Increases cholesterol and TAG
• Hypothyroidism
  
  • Raises TAG
• Obesity
  
  • Raises cholesterol and TAG
• Alcohol abuse
  
  • Raised TAG
• Renal failure
  
  • Raises cholesterol and TAG
• Pregnancy
  
  • Increased TAG
  • Goes down again after birth

Question 4

What is lipoprotein lipase deficiency? (5)

Answer 4

• can be LPL or apoCII deficiency
• very rare
• results in large increase in chylomicrons
• type 1a: lipase not produced
• type 1b: apoCII (lipase activator) not produced

Question 5

What is familial hypercholesterolaemia?

Answer 5

• LDL receptor deficiency
• ApoB deficiency
• leads to increase in LDL

Question 6

What is homozygous hypercholesterolaemia? (5)

Answer 6

• one defective gene
• common
• half the normal number of receptors
• if left untreated, can cause early CHD
• treated with statins

Question 7

What is heterozygous hypercholesterolaemia? (6)

Answer 7

• two defective genes
• no receptors
• CHD symptoms from 2 years old
• heart attack in teens
• death before 30
• treated with LDL apheresis or liver transplant

Question 8

What is xanthomas? (4)

Answer 8

• yellow non cancerous tumours
• rich in foam cells
• can be caused by other diseases
  
  • must be used with lipid plasma levels to give hyperlipidemia diagnosis

Question 9

What is Tangier disease? (6)

Answer 9

• hypertriglycademia
• low LDL
• very low HDL
• Orange tonsils, cloudy corneas, neuropathy
  
  • caused by cholesterol buildup
• increased CHD risk

Question 10

What is CTEP deficiency? (6)

Answer 10

• cholesterol ester transfer protein
• increased HDL
• increased apoAI
• reduced LDL
• no other clinical features
• does not impact CHD risk

Question 11

What is LCAT deficency?

Answer 11

• Lecithin acyltransferase

Question 12

What does complete LCAT deficiency do?

Answer 12

• very low HDL, apoAI and ApoAII
• cloudy corneas, glomerulosclerosis –> kidney failure
• no increased CHD risk

Question 13

What is partial LCAT deficiency?

Answer 13

• fisheye disease
• very low HDL, apoAI, apoAII
• no renal failure
• no increased CHD risk