Anesthetic Management of COL6A+ Bethlem/Ullrich Myopathy
Preoperative Assessment
- The American Thoracic Society recommends obtaining baseline pulmonary function tests, including FVC, to quantify respiratory muscle weakness in patients with COL6A+ Bethlem/Ullrich myopathy, as these patients develop progressive restrictive lung disease that may not manifest until adulthood 1, 2
- Patients with FVC <50% of predicted require heightened vigilance and planning for postoperative ventilatory support, according to the American College of Chest Physicians 1, 2
Intraoperative Management
- The British Journal of Anaesthesia recommends regional anesthesia (spinal, epidural, peripheral nerve blocks) or local anesthesia as the preferred approach when surgically feasible, completely avoiding risks associated with general anesthesia and muscle relaxants 4
- The American College of Medical Genetics and Genomics states that succinylcholine is absolutely contraindicated due to risk of hyperkalemic cardiac arrest and rhabdomyolysis in all myopathic patients 5, 6, 1
Postoperative Management
- The American College of Chest Physicians recommends ensuring TOF ratio >0.9 before extubation to confirm complete reversal of neuromuscular blockade 1, 8, 3
- The American Thoracic Society suggests using supplemental oxygen cautiously—monitor SpO2 continuously and assess if hypoxemia is due to hypoventilation, atelectasis, or airway secretions 2, 8
- The American College of Chest Physicians recommends using manually assisted cough and mechanical insufflation-exsufflation (MI-E) postoperatively in patients with impaired cough (PCF <270 L/min or MEP <60 cm H2O) 2, 8