Hyperlipoproteinemia, type I- MedGen UID:
- 7352
- •Concept ID:
- C0023817
- •
- Disease or Syndrome
Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Clearance of chylomicrons from the plasma is impaired, causing triglycerides to accumulate in plasma and the plasma to have a milky (lactescent or lipemic) appearance. Symptoms usually resolve with restriction of total dietary fat to =20 g/day.
Familial apolipoprotein C-II deficiency- MedGen UID:
- 328375
- •Concept ID:
- C1720779
- •
- Disease or Syndrome
Clinically and biochemically, apoC-II deficiency closely simulates lipoprotein lipase deficiency, or hyperlipoproteinemia type I (238600), and is therefore referred to as hyperlipoproteinemia type IB.
Hyperlipidemia due to hepatic triglyceride lipase deficiency- MedGen UID:
- 462816
- •Concept ID:
- C3151466
- •
- Disease or Syndrome
Hepatic lipase deficiency is characterized by premature atherosclerosis, elevated total cholesterol, triglycerides (TG), and very low density lipoprotein (VLDL), as well as TG-rich low density lipoprotein (LDL) and HDL subfractions (summary by Hegele et al., 1991).
Hyperlipoproteinemia, type 1D- MedGen UID:
- 863204
- •Concept ID:
- C4014767
- •
- Disease or Syndrome
Hyperlipoproteinemia type ID is a rare autosomal recessive disorder characterized by impaired clearance of triglyceride (TG)-rich lipoproteins in plasma, leading to severe hypertriglyceridemia (chylomicronemia). Clinical features include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, episodes of abdominal pain, and pancreatitis. Onset usually occurs in adulthood (summary by Brahm and Hegele, 2013).
For a discussion of genetic heterogeneity of familial chylomicronemia, see 238600.