Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group

Abstract

BackgroundPompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms.MethodsAn expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities.ResultsThese guidelines set out practical recommendations and include 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.ConclusionsThese guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.

Late‐onset pompe disease in Iran: A clinical and genetic report

“…All patients received alglucosidase alfa enzyme replacement therapy (ERT) at the approved dose of 20 mg/kg every 2 weeks, according to consensus recommendations from the Middle East and North Africa (MENA) expert group, after confirmation of LOPD. Patient 7 was noncompliant with BiPAP and ERT, his condition deteriorated, and he died within 2 years.…”

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

“…Although no previously published guidelines suggest that pre‐symptomatic patients should be treated, some indicate that treatment can be considered in pre‐symptomatic patients with abnormal muscle imaging or biopsy results . Although there is currently no evidence to show whether pre‐symptomatic patients benefit from treatment, and it has been shown that they may remain pre‐symptomatic for years , such patients may already be losing muscle mass, which they may not be able to regain.…”

“…Several national practices and published recommendations do include some criteria for withdrawing treatment , but none mention the detection of high antibody levels against alglucosidase alfa that counteract the treatment effect as a reason to stop treatment. The effect of antibodies does seem to be much higher in infants than in adults .…”

“…Recommendations for treating and/or managing adult patients with Pompe disease have been composed for several countries , but general European guidelines do not exist. In 2014 the European Pompe Consortium was formed during the 208th European Neuromuscular Centre international workshop.…”

Headache: A Presentation of Pompe Disease; A Case Report

“…A systemic review showed that enzyme replacement therapy was associated an increase of 1.4 % FVC after 2 months [17]. Because of such effective treatments, physicians are advised to be informed about various presentation of Pompe disease, especially respiratory insufficiency as an essentially fatal condition [18].…”