1. Lipoprotein Lipase (Type I hyperlipidemia): Increased chylomicrons and VLDL (triglycerides) with decrease in LDL and HDL – cholesterol is normal
Other features of type I hyperlipidemia:
- Red-orange eruptive xanthomas
- Fatty liver
- Acute pancreatitis
- Abdominal pain after fatty meal
- No atherosclerosis (LDL is not raised)
2. LDL receptor (Type II hyperlipidemia): Increased LDL (cholesterol)
Other features of Type IIa hyperlipidemia:
- Xanthomas of achilles tendon
- Subcutaneous tuberous xanthomas over the elbows
- Xanthelasmas (lipid in the eyelid)
- Corneal arcus
- High risk of atherosclerosis and coronary artery disease
- No pancreatitis
3. Apo E (Type III hyperlipidemia or familial dysbetalipoporteinemia or remnant hyperlipidemia):
4. Unknown defect leading to overproduction or under-clearance of VLDL (Type IV hyperlipidemia):
Type V Hyperlipidemia (Mixed hyperlipidemia): Type I + Type IV hyperlipidemia
- Remember: 1 + 4 = 5
5. B-100 and B-48: Abetalipoproteinemia
6. ABCA-1: Tangier disease
7. Defect in Lysosomal Hydrolysis of cholesterol: Cholesteryl Ester Storage Disease (Wolman’s Disease).
All are inherited in autosomal recessive pattern except type II hyperlipidemia (receptor defect) and type IV hyperlipidemia which are autosomal dominant. To learn the technique of guessing the inheritance pattern of genetic diseases – use this mnemonic.