apolipoprotein C2 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.