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 (Rheumatology): 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

11 studies for adult^# LOPD

Rheumatology-Specific

Clinical Presentation for Adult^# LOPD Proposed During the First Meeting

Unexplained general/inflammatory myopathy
Asymptomatic hyperCKemia/paucisymptomatic
Unexplained LGMW
Polymyositis non-responding to steroids

High CK/elevated
LDH, ALT, and AST

Rheumatology-Specific Diagnostic Algorithm Proposed During the Second Meeting

Conclusion

A consensus-based diagnostic algorithm simplifies LOPD diagnosis across specialties

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.

*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.

References

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.