Anaesthetic Management of Advanced Late-Onset Pompe Disease: Challenges in a Major Abdominal Surgery

TL;DR

This paper discusses the challenges of managing anesthesia for a patient with late-onset Pompe disease during major abdominal surgery.

Contribution

The paper provides insights into safe anaesthetic approaches for rare cases of Pompe disease undergoing non-cardiac surgery.

Findings

Multidisciplinary perioperative management is crucial for patients with Pompe disease.

Regional analgesia and postoperative respiratory support are effective strategies in such cases.

Abstract

Pompe disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of acid alpha-glucosidase, leading to glycogen accumulation in various tissues. The late-onset form predominantly affects skeletal and respiratory muscles, with minimal cardiac involvement. Due to respiratory muscle weakness and potential pulmonary complications, this disease presents significant challenges in perioperative management. We report the case of a patient with late-onset Pompe disease with moderate restrictive disease, dependent on nocturnal bilevel positive airway pressure (BiPAP), who underwent elective major abdominal surgery under combined general and epidural anaesthesia. This case emphasises the importance of multidisciplinary perioperative management, which includes postoperative respiratory support strategies and the choice of regional analgesia. Despite the rarity of such cases, especially in major non-cardiac surgery, this report contributes valuable insights into safe anaesthetic approaches for this complex patient population.

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