apolipoprotein C-II deficiency

apolipoprotein C2 deficiency

An autosomal recessive condition (OMIM:207750) characterised by recurring pancreatitis, xanthomas, diabetes and atherosclerosis.
 
Molecular pathology
Mutation of APOC2.

Lab
Absent apolipoprotein C2; 50% decreased apolipoprotein A1; decreased apolipoprotein A2, apolipoprotein B, LDL and HDL; increased triglyceridess, cholesterol, chylomicrons, VLDL and apolipoprotein E.

Management
Diet.

apolipoprotein C-II deficiency

An AR condition characterized by recurring pancreatitis, DM Lab Absent apoC-II, 50% ↓ apoA-I, ↓ A-II, ↓ apoB, ↓ LDL, ↓ HDL; ↑ TGs, ↑ cholesterol; ↑ chylomicrons, ↑ VLDL, ↑ apoE Treatment Diet