Lipid disorders Flashcards
How might lipid disorders come to a doctors attention ?
- After a cardiovascular event
- Patient may have a physical sign of a lipid disorder
- Patient has acute pancreatitis
- Blood looks abnormal
- Patient might be chosen for lipid testing
- Patient has a family history
What are the physical signs of lipid disorder ?
- Xanthelasma (yellow plaques around eyes)
- Corneal arcus (white around outside of eye)
- Tendon xanthoma (thickening of tendons)
- Eruptive xanthoma (rashes)
- Palmar xanthoma
- Lipaemia retinalis
What can cause pancreatitis?
- gallstone gets stuck
- patient has too much alcohols
- high level of triglycerides
How are lipids transported around the body?
In lipoproteins
What is the lipoprotein with the lowest density?
Chylo-microns
What is the protein on the surface of LDL?
Apo B100
What is the protein on the LDL receptor ?
PCSK9
What are the 3 types of faults there can be in the gene in the mechanism of FH?
- faulty LDL- receptor (majority)
- faulty Apo-B100
- gain of function of PCSK9
Where is LDL taken out of the cells?
In the liver
What is a normal level of cholesterol in an adult ?
4-5 mmol/L
Is FH autosomal dominant or recessive?
Dominant
What causes dysbetalipoproteinaemia? (Type 3 hyperlipidaemia/remnant hyperlipidaemia/ broad beta disease)
Mutations in the APO-E gene - must have both copies of the APO-E2 gene as it is autosomal recessive
List examples of triggers of dysbetalipoproteinaemia.
- Obesity
- Diabetes
- Hypothyroidism
- Low oestrogen states in women
What are the features of dysbetalipoproteinaemia?
- marked raised cholesterol and triglycerides
- cutaneous lipid deposition
- premature cardiovascular disease
What is familial chylomicronaemia syndrome ?
It is an autosomal recessive disorder where there is too many chylomicrons in blood due to a fault in the gene encoating their lipoprotein lipase.
What is a serious condition that comes from FCS?
Acute pancreatitis
What is tangier disease?
A disease in which there is a problem with a gene encoding one of the proteins that helps HDL do its job
What does HDL do?
Involved in the pathway that pulls cholesterol away from tissues
What is polygenic hypercholesterolaemia?
The result of inheriting lots of different genes from your parents that each out your cholesterol up a slight amount
How do we calculate the risk of cardiovascular events ?
Q-RISK
