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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
