LPL / APOC2 AR unreviewed
Familial chylomicronaemia (type I)
Enzyme or protein defect
Lipoprotein lipase or apoC-II
Accumulates or becomes deficient
Chylomicrons; triglycerides
Key features
Eruptive xanthomas, lipaemia retinalis, recurrent pancreatitis; creamy supernatant
Management
Very-low-fat diet; MCT
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
No articles returned.