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

Rheumatology-Specific

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

Rheumatology-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.