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"Liver function tests" are not always tests of liver function

D N Korones1, M R Brown, J Palis

  • 1Department of Pediatrics, University of Rochester, School of Medicine and Dentistry, Children's Hospital at Strong, New York 14642, USA. david-korones@urmc.rochester.edu

American Journal of Hematology
|June 28, 2001
PubMed

Insights

Pediatric patients with unexplained liver enzyme elevations (AST, ALT, LDH) may have underlying muscle disease. Testing creatine kinase (CK) can help diagnose muscular dystrophies, preventing treatment delays for other conditions.

Area of Science:

  • Pediatric Hematology/Oncology
  • Clinical Biochemistry
  • Neuromuscular Disorders

Background:

  • Persistent elevations in liver enzymes such as aspartate aminotransferase (AST), alanine aminotransferase (ALT), and lactate dehydrogenase (LDH) can indicate liver disease.
  • Diagnostic delays in pediatric patients can negatively impact treatment outcomes for primary conditions.

Observation:

  • Two pediatric patients, one with Wilm's tumor and another with immune thrombocytopenic purpura (ITP), presented with unexplained elevations in AST, ALT, and LDH.
  • Extensive evaluations for liver disease in these patients led to significant delays in their cancer and ITP treatments.

Findings:

  • Both patients were eventually diagnosed with muscular dystrophies (Duchenne's and Becker's) after extremely elevated serum creatine kinase (CK) levels were detected.
  • Muscle biopsies confirmed the diagnoses of Duchenne's muscular dystrophy and Becker's muscular dystrophy.

Implications:

  • Serum CK testing should be considered in pediatric patients with unexplained elevations of AST, ALT, and LDH to rule out underlying muscular dystrophy.
  • Early identification of muscular dystrophy can prevent misdiagnosis and unnecessary liver disease workups, ensuring timely treatment for critical conditions like Wilm's tumor and ITP.

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