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