Anaesthetic implications for Pompe disease. A case description

Area of Science:

• Metabolic Myopathies
• Autosomal Recessive Disorders
• Anesthesiology

Background:

• Pompe disease (glycogenosis type II) is a rare, autosomal recessive metabolic myopathy causing progressive muscle weakness and multisystem issues.
• It is associated with a high risk of anesthesia complications, notably cardiac, respiratory, and difficult airway management.
• Effective perioperative risk reduction necessitates thorough preoperative evaluation.

Observation:

• This article details the anesthetic management of an adult Pompe disease patient undergoing osteosynthesis of the proximal left humerus.
• The patient's history of adult-onset Pompe disease required specialized anesthetic considerations.

Findings:

• Difficult airway management is identified as the primary anesthesia-related complication in Pompe disease patients.
• Comprehensive preoperative assessment is vital for mitigating perioperative morbidity and mortality.

Implications:

• This case highlights the critical need for meticulous preoperative assessment and planning for anesthesia in Pompe disease patients.
• Understanding the specific anesthetic risks associated with Pompe disease is essential for surgical teams to ensure patient safety.