biochemistry clinical notes

Question 1

Familial chylomicronemia

Answer 1

Type 1 hyperlipidemia
Deficient in LPL or apoC2
Chylomicrons remain TAG rich
Elevated fasting CM
Eruptive xanthoma, pancreatitis
Consume Short/ medium chain tgs

Question 2

Tangier disease

Answer 2

Alpha lipoprotein defic
cause: ABCA1 defic
Cholesterol accumulates in tissues
Low HDL/LDL
Large orange tonsils
No treatment

Question 3

Abetalipoproteinemia

Answer 3

CM retention disease
CM/LDL/VLDL are almost absent
Failure to thrive, fat gain, steatorrhea
Low fat- calorie rich diet
Vitamin supplements

Question 4

Familial combined hyperlipidemia type 2b

Answer 4

Overproduction of ApoB100
Elevated VLDLs/ LDL
Xanthelasma on eyelid, premature CVD
Combo drug therapy/ diet/ lifestyle changes

Question 5

Familial dysbetalipoproteinemia type 3

Answer 5

Elevated IDL and CM remnants
Tuboeruptive xanthoma, palmar striated xanthomata
premature CVD
Combo drug therapy/ diet lifestyle changes