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[Elevated liver enzyme levels; not exclusive to liver disease]
Maarten Te Groen1,2, Joost P H Drenth1, Nicol Voermans3
1Radboudumc, Afd. Maag-, Darm- en Leverziekten, Nijmegen.
Nederlands Tijdschrift Voor Geneeskunde
|February 20, 2020
Summary
Mildly elevated liver enzymes may signal underlying muscular disease, not just liver issues. Early creatine kinase (CK) testing can differentiate causes, avoiding unnecessary procedures.
Area of Science:
- Hepatology
- Neurology
- Genetics
Background:
- Elevated liver enzymes often prompt suspicion of underlying liver disease.
- However, muscular disorders can also manifest with similar biochemical abnormalities.
Observation:
- A 41-year-old woman presented with elevated liver enzymes and fatigue.
- She reported recent muscular pain and difficulty rising, alongside abnormal aminotransferase and creatine kinase (CK) levels.
- These symptoms were attributed to an ANO5 gene mutation.
Findings:
- The case highlights that elevated liver enzymes can be a symptom of muscular disease.
- ANO5 gene mutations are linked to muscular disorders presenting with liver enzyme abnormalities.
Implications:
- Measuring CK levels early is crucial for distinguishing muscular disease from liver conditions.
- This diagnostic approach can prevent unnecessary, invasive, and costly investigations.
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