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.
