Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease
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View abstract on PubMed
Summary
This summary is machine-generated.Pompe disease (PD) diagnosis can be challenging due to elevated transaminases mimicking liver issues. This study emphasizes considering muscle origin, indicated by AST:ALT > 1 and elevated CK, to avoid unnecessary liver biopsies in late-onset PD patients.
Area Of Science
- Biochemistry
- Genetics
- Neurology
Background
- Pompe disease (PD) is an inherited metabolic disorder caused by acid alpha-glucosidase (GAA) deficiency.
- Late-onset PD (LOPD) often presents with elevated transaminases, mimicking liver disease and potentially leading to misdiagnosis.
- Elevated transaminases in LOPD reflect muscle injury, not hepatic damage.
Purpose Of The Study
- To highlight the diagnostic challenges in late-onset Pompe disease (LOPD).
- To emphasize the importance of differentiating muscle injury from liver disease in LOPD diagnosis.
- To underscore the value of specific clinical and biochemical markers in guiding LOPD diagnosis and avoiding invasive procedures.
Main Methods
- Review of three LOPD patient cases with elevated transaminases who underwent liver biopsies prior to diagnosis.
- Evaluation of liver histology and comparison with a GAA knockout mouse model.
- Analysis of clinical presentations, diagnostic workups, enzyme testing, and genetic testing for <i>GAA</i> variants.
Main Results
- All reviewed cases had elevated transaminases and underwent liver biopsy, with findings ranging from normal to non-specific glycogen accumulation.
- Aspartate transaminase (AST) levels were higher than alanine transaminase (ALT) levels (AST:ALT > 1) in all cases, with elevated creatine kinase (CK).
- Enzyme and genetic testing confirmed GAA deficiency and pathogenic <i>GAA</i> variants, establishing the LOPD diagnosis.
Conclusions
- Elevated transaminases in LOPD warrant consideration of a muscle origin, especially when AST:ALT > 1 and CK is elevated.
- Liver biopsy is often unnecessary and can be misleading in LOPD diagnosis.
- Non-invasive approaches like neuromuscular gene panels and GAA enzyme testing are crucial for accurate LOPD diagnosis.
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