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Title
Familial hyperchylomicronemia (Type I)
ImagePath
System
lipoprotein metabolism
Overview
Severe elevation of chylomicrons & TGs due to LPL pathway defect
Pathophysiology
AR deficiency of lipoprotein lipase or ApoC‑II cofactor
Presentation
Recurrent pancreatitis, eruptive xanthomas, lipemia retinalis, hepatosplenomegaly
Diagnosis
↑TG >1000 mg/dL, ↑chylomicrons after 12‑h fast, normal LDL/HDL
Management
Very‑low‑fat diet, fibrates, omega‑3 FA; no alcohol
Epidemiology
Rare (<1:1 000 000)
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