Respiratory physiotherapy management in a patient with late-onset Pompe disease and difficulty in prolonged weaning: a case report

Abstract

Introduction: Late-onset Pompe disease (LOPD) is a rare disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase, which can affect the respiratory muscles.

Case presentation: A 72-year-old female patient with a diagnosis of LOPD was admitted to the institution. She had a tracheostomy, was on invasive mechanical ventilation (IMV), and presented maximal static pressures of -20 cmH₂0 and 20 cmH₂0. Two months after admission, therapy with human acid alpha-glucosidase (20 mg/kg every 14 days) was initiated. Four months later, the patient reached a maximal inspiratory pressure of -44 cmH₂O and a vital capacity (VC) of 28.7 ml/kg, but she did not tolerate spontaneous ventilation due to alveolar hypoventilation. Then, mouthpiece ventilation was implemented during the day, with good tolerance, and IMV was maintained for nocturnal rest. At discharge, her health insurance provider did not supply the equipment required for MPV, so leak ventilation was instituted as a safe alternative aimed at ensuring quality of life.

Conclusion: Functional ventilatory improvement in a patient with LOPD was observed three months after starting enzyme replacement therapy. Despite reaching acceptable VC values, she was unable to pass the spontaneous breathing trial.