Anesthetic Management of a Pregnant Woman with Ehlers-Danlos Syndrome: Genotype versus Phenotype
Abstract Number: F-44
Abstract Type: Case Report/Case Series
Introduction: Ehlers-Danlos syndrome (EDS) is a heterogeneous disease characterized by tissue dysfunction secondary to abnormal collagen production (1). Vascular type EDS has the potential for life threatening consequences in pregnant women, as visceral and vascular rupture rates increase with pregnancy (2). We describe a case of a term parturient clinically diagnosed with hypermobility type EDS, but later diagnosed with vascular type via genetic testing during her pregnancy. Patient written consent was obtained for this publication.
Case Report: Hypermobility type EDS had been diagnosed in this 26 year old term primigravida two years prior to her pregnancy, after she presented with concern of joint pain and hypermobility. Genetic testing revealed a heterozygous variant of the COL3A1 gene, classically consistent with vascular EDS. A multidisciplinary decision was made to rely on (or prioritize) the phenotype rather than genotype. An induced vaginal labor and deliver with instrumental assistance was planned. We elected to proceed with placement of an epidural catheter for provision of labor analgesia and delivery anesthesia. Excellent maternal and neonatal outcome resulted.
Discussion: Vascular EDS is an autosomal dominant disorder caused by a mutation in the gene coding type III collagen (COL3A1) and is estimated to occur in 1/10,000 to 1/20,000 births (3). Severe morbidity and mortality has been estimated to occur in 12-25% of parturients, owing to risk of bowel and/or uterine rupture, extensive perineal trauma, severe bleeding, and delayed wound healing(2). Recommendations against provision of neuraxial anesthesia have been made in light of the theoretical risk of spinal hematoma formation(2). Some have also recommended early delivery at 32-34 weeks gestational age via cesarean delivery under general anesthesia(4). Our patient’s genetic mutation did not correlate with a typical clinical presentation of one with vascular EDS. Thus, previously noted recommendations made on the management of the parturient with vascular type EDS did not seem particularly relevant in this rare situation.
Conclusion: Consideration of phenotype rather than genotype alone was 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 preparation for labor and delivery due to the potential for catastrophic complications. However, in the absence of convincing phenotypical signs of vascular EDS as in our case, it may be rational to offer asymptomatic parturients neuraxial anesthesia and a trial of vaginal labor.
References: 1) Am J Med Gen 1998; 77: 31–7; 2) J. Rare Dis. 2014; 9: 109; 3) Arch Gynecol Obstet 2012: 285:51-54; 4) Ann Vasc Surg 2001: 16:391-397.