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hyperlipoproteinemia type 5
Etiology:
1) familial form
2) secondary forms (similar to type 4)
a) obesity &/or glucose intolerance
b) alcohol abuse
c) oral estrogen/progesterone-containing contraceptives
Epidemiology:
1) less common than type 4
2) expression in childhood or adolescence is uncommon
3) patients may fluctuate between types 4 & 5
Clinical manifestations:
1) lipemia retinalis
2) xanthomas
3) pancreatitis
Genetics:
- associated with defects in APOA5
- not well understood
Laboratory:
1) elevated serum triglyceride, VLDL, & chylomicrons
2) normal lipoprotein lipase & hepatic triglyceride lipase activities distinguished from type 1 hyperlipoproteinemia
Management:
1) correct precipitating causes
a) obesity
b) diabetes
c) alcohol
d) oral contraceptives
2) high protein diet
3) anti-hyperlipidemic agents is rarely necessary
a) niacin is drug of choice
b) fibrates are seldom useful
c) large doses of fish oil have been used (6-8 g/day)
d) oxandrolone (androgen) is often effective in patients unresponsive to niacin
General
hyperlipoproteinemia (HLP)
lipid metabolism, inborn error; lipid storage disease; lipidosis
References
- Clinical Diagnosis & Management by Laboratory Methods,
J.B. Henry (ed), W.B. Saunders Co., Philadelphia,
PA. 1991, pg 209
- Tietz Textbook of Clinical Chemistry, 2nd ed. Burtis CA &
Ashwood ER (eds), WB Saunders Co, Philadelphia PA, 1993,
pg 1046
- OMIM :accession 232200
- OMIM :accession 144650
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