Anesthetic management of a parturient with hypermobility phenotype but possible vascular genotype Ehlers-Danlos syndrome.

PURPOSE: We describe a case of a term parturient previously clinically diagnosed with hypermobility type Ehlers-Danlos syndrome (EDS) but later diagnosed with a genotype that may be associated with vascular type EDS.

CLINICAL FEATURES: This 26-yr-old primigravida had been clinically diagnosed with hypermobility type EDS prior to her pregnancy. Nevertheless, subsequent genetic testing during pregnancy revealed a heterozygous variant of unknown significance in the COL3A1 gene causative for vascular type EDS. A multidisciplinary decision was made to prioritize the phenotype rather than the genotype in regard to clinical management of labour. An induced labour was planned with instrument-assisted vaginal delivery. We elected to proceed with placement of an epidural catheter for provision of labour analgesia and anesthesia during delivery. Both maternal and neonatal outcomes were excellent.

CONCLUSION: The risk of severe morbidity and mortality in parturients with vascular EDS has warranted recommendations for modified management of labour, particularly regarding mode and timing of delivery. Nevertheless, a multidisciplinary approach and consideration of phenotype rather than genotype alone were instrumental in the successful management of this patient. Genetic testing of patients who display features of EDS and/or who have a positive family history of the disease is important in the preparation for labour and delivery. In the absence of convincing signs of vascular EDS and a negative family history, it may be rational to offer certain parturients neuraxial anesthesia and a trial of vaginal labour.