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Expert Group Consensus From the Arabian Peninsula On the Diagnosis of Lopd

Objective and Method

Consensus based on literature supporting clinical presentation and recommendations

Literature Analysis on LOPD Symptoms (Pulmonology): Hierarchy of Evidence


 

  • Systemic review and meta-analysis
  • Randomized controlled trials
  • Observational studies (cohort studies/screening studies)
  • Case series studies
  • Case series, case reports
  • Expert Opinion

 




 

  • 4 studies for adult# LOPD
  • 7 studies for pediatric* LOPD and 11 studies for adult# LOPD

Pulmonology-Specific

Clinical Presentation for Pediatric/Juvenile* and Adult# LOPD Proposed During the First Meeting

  •  Respiratory failure/insufficiency
  •  Diaphragm weakness
  •  Dyspnea
  •  Orthopnea
  •  Sleep-disordered breathing

 

 

High CK/elevated
LDH, ALT, and AST

Pulmonology-Specific

Diagnostic Algorithm Proposed During the Second Meeting

Conclusion

A consensus-based diagnostic algorithm simplifies LOPD diagnosis across specialties

  • Guides clinicians in the differential diagnosis of LOPD
  •  Facilitates direct referral for early and accurate diagnosis of LOPD

Recommendation
Testing for Pompe disease must be done if any one specialty-specific symptom plus elevated CK/LDH/ALT/AST or a family history of unexplained muscle weakness are present.

Conclusion

*The age of patients with pediatric/juvenile LOPD ranges from 1 to 17 years; #The age of patients with adult LOPD is usually 18 years and above.

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Abbreviations

ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; CK: Creatine kinase; DBS: Dried blood spot testing; DMD: Duchenne muscular dystrophy; KSA: Kingdom of Saudi Arabia; LDH: Lactate dehydrogenase; LGMW: Limb–girdle muscle weakness; LOPD: Late-onset Pompe disease; MG: Myasthenia gravis; SMA: Spinal muscular atrophy; UAE: United Arab Emirates.

Reference

  1. Al Shehri A, Al-Asmi A, Al Salti AM, et al. A multidisciplinary perspective addressing the diagnostic challenges of late-onset Pompe disease in the Arabian Peninsula region developed from an Expert Group Meeting. J Neuromuscul Dis. 2022;9(5):661–673.
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