Expert group consensus from the Arabian Peninsula on the diagnosis of LOPD
.webp6/jcr:content/science%20hero%20(3).webp)
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
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.
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
- 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.
