Clinical and Laboratory Features of LAL-D in Adults

  • Abdominal pain
  • Hepatomegaly or hepatosplenomegaly (may be mild)
  • Chronic diarrhea
  • Elevated chitotriosidase
  • Dyslipidemia
    • Elevated triglycerides
    • Hypercholesterolemia
    • Low HDL-C and high LDL-C
  • Accelerated atherosclerosis
  • Elevated liver function tests (LFTs)
  • Hepatic biopsy
    • Bright yellow-orange tissue
    • Fibrosis/cihrrosis
    • Steatosis (most often microvesicular)
    • Enlarged, lipid-laden hepatocytes and Kupffer cells

Reference: Differential diagnosis of LAL-D. from: http://laldsource.com/diagnosis-and-testing/getting-to-a-diagnosis/ Accessed May 7, 2015.

Read more about Lysosomal Acid Lipase Deficiency (LAL-D) in Adults: Epidemiologic Multi-Center Study Underway.

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