Search
hyperlipoproteinemia type 1; familial hyperchylomicronemia
Etiology:
1) primary or familial (see types 1a & 1b)
2) secondary forms (transient)
a) acute pancreatitis
b) uncontrolled diabetes mellitus
c) hypothyroidism
d) dysglobulinemia
e) systemic lupus erythematosus
f) oral contraceptives
Epidemiology:
1) extremely uncommon
2) familial forms diagnosed < 10 years of age
3) secondary forms in adults
Pathology:
1) deficiency in lipoprotein lipase, or
2) deficiency in apolipoprotein C2
3) increased plasma chylomicrons
Genetics:
- recessve form associated with defect in lipoprotein lipase
- associated with defects in USF1
Clinical manifestations:
1) recurrent abdominal pain
2) hepatosplenomegaly
3) eruptive xanthomas
4) lipemia retinalis
5) acute pancreatitis
6) peritonitis
7) manifests in childhood
Laboratory:
1) examination of the specimen for a creamy layer (evidence of chylomicrons)
2) fasting lipid panel -> increased triglycerides (chylomicrons)
3) serum amylase
a) may be falsely normal due to an unidentified inhibitory factor
b) dilution of the serum with normal saline may increase amylase levels
Management:
1) major objective is to prevent recurrent abdominal episodes
2) strict adherence to diet
a) total fat < 0.5. mg/kg/day
b) medium-chain triglycerides that enter portal venous system directly without formation of chylomicrons may be used if adequate calories is an issue
3) acute abdominal attack
a) intravenous therapy for 1st 24 hours
b) totally fat-free diet until resolution
Related
acute pancreatitis
apolipoprotein C2; apo-CII (APOC2, APC2)
chylomicron
diabetes mellitus
eruptive xanthoma; eruptive xanthelasma
hypothyroidism
lipoprotein lipase (lipase-D, post heparin lipase, LPL, LIPD)
oral contraceptive (OC)
systemic lupus erythematosus
Specific
hyperlipoproteinemia type 1A
hyperlipoproteinemia type 1B
General
hyperlipoproteinemia (HLP)
lipid metabolism, inborn error; lipid storage disease; lipidosis
Figures/Diagrams
Assessment of lipoprotein disorders
References
- Clinical Diagnosis & Management by Laboratory Methods,
J.B. Henry (ed), W.B. Saunders Co., Philadelphia,
PA. 1991, pg 207
- Tietz Textbook of Clinical Chemistry, 2nd ed. Burtis CA &
Ashwood ER (eds), WB Saunders Co, Philadelphia PA, 1993,
pg 1035