Type I hyperlipoproteinaemia

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• Synonyms

  • Hyperchylomicronaemia
  • Chylomicronaemia syndrome
  • Polygenic hypertriglyceridaemia
  • Buerger-Gruetz syndrome

• Causes

  • Apolipoprotein C2
  • Lipoprotein lipase deficiency

• Effects

  • Hypertriglyceridaemia
  • Eruptive xanthoma
  • Lipaemia retinalis
  • Retinal vein occlusion
  • Acute pancreatitis
  • Steatosis
  • Abdominal colic
  • Hepatomegaly
  • Splenomegaly
  • Elevated very low density lipoprotein

• Parents

  • Hyperlipidaemia

• Description

  • "Rare 0.1% prevalence Presents in childhood No increased risk of heart disease Rx medium chain fats"