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Ency. home > Disease > F > Familial lipoprotein lipase deficiency

Familial lipoprotein lipase deficiency   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Type I hyperlipoproteinemia; Familial chylomicronemia

Symptoms

  • abdominal pain (may manifest as colic in infancy)
  • nausea, vomiting, lost desire to eat
  • failure to thrive in infancy
  • musculoskeletal pain
  • skin lesions -- xanthomas (in particular "eruptive" xanthomas i.e., numerous, fatty deposits in the skin)

Signs and Tests

A physical examination reveals xanthomas, an enlarged liver, an enlarged spleen, and jaundice may be evident. An eye examination reveals pale retinas and whitish retinal vessels.

Tests that may indicate this disorder is present include:

  • milky appearing serum/plasma from blood.
  • a special test showing absent or decreased lipoprotein lipase activity in blood collected after treatment with intravenous heparin.
  • markedly elevated triglycerides in blood.
  • elevation of cholesterol and total fat in blood.
  • failure to remove chylomicrons from blood more than 12 hours after a meal.
  • an overnight icebox test showing chylomicrons in fasting serum.
  • an apolipoprotein CII deficiency may cause a rare subset of this disease in people with normal lipoprotein lipase activity.
  • genetic testing may reveal a mutation(s) in the genes for lipoprotein lipase or apolipoprotein CII.

Ency. home > Disease > F > Familial lipoprotein lipase deficiency

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