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Consensus treatment recommendations for late‐onset Pompe disease

2011; Wiley; Volume: 45; Issue: 3 Linguagem: Inglês

10.1002/mus.22329

1097-4598

Edward Cupler, Kenneth I. Berger, Robert T. Leshner, Gil I. Wolfe, Jay J. Han, Richard J. Barohn, John T. Kissel,

Child Nutrition and Feeding Issues

Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders.Objective is to propose consensus-based treatment and management recommendations for late-onset Pompe disease.A systematic review of the literature by a panel of specialists with expertise in Pompe disease was undertaken.A multidisciplinary team should be involved to properly treat the pulmonary, neuromuscular, orthopedic, and gastrointestinal elements of late-onset Pompe disease. Presymptomatic patients with subtle objective signs of Pompe disease (and patients symptomatic at diagnosis) should begin treatment with enzyme replacement therapy (ERT) immediately; presymptomatic patients without symptoms or signs should be observed without use of ERT. After 1 year of ERT, patients' condition should be reevaluated to determine whether ERT should be continued.