Familial chylomicronemia syndrome (HLP type 1)

What is Familial chylomicronemia syndrome (HLP type 1)

Familial chylomicronemia syndrome is caused by the mutation in the lipoprotein lipase gene situated on the chromosome 8p21.

Synonyms

  • Lipoprotein Lipase Deficiency
  • LPL Deficiency
  • Familial Hyperchylomicronemia
  • HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE
  • HYPERLIPEMIA, ESSENTIAL FAMILIAL
  • LIPASE D DEFICIENCY
  • LIPD DEFICIENCY
  • HYPERLIPOPROTEINEMIA, TYPE IA

Symptoms and Signs of Familial chylomicronemia syndrome

Mandatory Symptoms and Signs (100% present)

  • Hyperchylomicronemia 
  • Hyperlipidemia 
  • Hypertriglyceridemia

Very Common Symptoms and Signs (80%-98%)

  • Acute pancreatitis 
  • Episodic abdominal pain 
  • Hepatosplenomegaly 
  • Lipemia retinalis 
  • Recurrent pancreatitis

Common Symptoms and Signs (30%-79%)

  • Eruptive xanthomas 
  • Hepatic steatosis

Occasional Symptoms and Signs (5%-29%)

  • Decreased body weight 
  • Failure to thrive
  • Nausea and vomiting 

Rare Symptoms and Signs (4%-1%)

  • Abnormal emotion/affect behavior 
  • Dementia 
  • Depressivity 
  • Diabetes mellitus 
  • Jaundice 
  • Memory impairment 
  • Perianal abscess 
  • Pulmonary embolism
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