hyperlipoproteinemia type 5

Etiology

• familial form
• secondary forms (similar to type 4)
  • obesity &/or glucose intolerance
  • alcohol abuse
  • oral estrogen/progesterone-containing contraceptives

Epidemiology

• less common than type 4
• expression in childhood or adolescence is uncommon
• patients may fluctuate between types 4 & 5

Genetics

• associated with defects in APOA5
• not well understood

Clinical manifestations

• lipemia retinalis
• xanthomas
• pancreatitis

Laboratory

• elevated serum triglyceride, VLDL, & chylomicrons
• normal lipoprotein lipase & hepatic triglyceride lipase activities distinguished from type 1 hyperlipoproteinemia

Management

• correct precipitating causes
  • obesity
  • diabetes
  • alcohol
  • oral contraceptives
• high protein diet
• anti-hyperlipidemic agents is rarely necessary
  • niacin is drug of choice
  • fibrates are seldom useful
  • large doses of fish oil have been used (6-8 g/day)
  • oxandrolone (androgen) is often effective in patients unresponsive to niacin

More general terms

• hyperlipoproteinemia (HLP)
• lipid metabolism, inborn error; lipid storage disease; lipidosis

Database

• OMIM: https://mirror.omim.org/entry/232200
• OMIM: https://mirror.omim.org/entry/144650