Title : Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region
Abstract:
Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase. Late-onset Pompe disease has a complex multisystem phenotype characterized by arange of symptoms which has led to underestimate the disease among adult population. Consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease was created by an expert panel from the Middle East and North Africa (MENA) region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities.These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. In addition, we recently diagnosed the first two patients with Late-onset Pompe disease in the middle east.
Audience take away:
- These consensus recommendations from an expert group set out practical guidelines including algorithms for the diagnosis and treatment of late-onset Pompe disease.
- They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring.
These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes
