Hepatosteatosis from Lysosomal Acid Lipase Deficiency - Takeaways - MDSpire

Hepatosteatosis from Lysosomal Acid Lipase Deficiency

  • By

  • Stephan Zandanell

  • Florian Primavesi

  • Elmar Aigner

  • August 6, 2018

  • 0 min

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  • 1

    A 21-year-old male presented with inguinal pain and was found to have massive liver steatosis during hernia surgery.

  • 2

    Histological examination revealed 50–60% microvesicular steatosis and extensive fibrosis in the liver biopsy.

  • 3

    Lysosomal acid lipase activity was found to be 0.0 nmol/3 h, confirming a diagnosis of lysosomal acid lipase deficiency.

  • 4

    LAL deficiency can lead to severe liver disease and is associated with high LDL, total cholesterol, and triglycerides.

  • 5

    Timely diagnosis of LAL deficiency is critical as enzyme replacement therapy with sebelipase alfa is now available.

Original Source(s)

Hepatosteatosis from Lysosomal Acid Lipase Deficiency

  • by Stephan Zandanell, Florian Primavesi, Elmar Aigner

  • August 6, 2018

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