S002: MANAGEMENT OF CESAREAN DELIVERY IN A PARTURIENT WITH FAMILIAL DYSAUTONOMIA
Aaron Wong, MD1; Kevin Lukose, MD1; Marisol Perales, MD2; Giselle Helo, MD2; Benjamin Houseman, MD, PhD2
1Memorial Hospital Systems; 2Envision Health Services
Background: Familial dysautonomia (FD) is a rare autosomal-recessive disorder caused by pathogenic variants in the ELP1 (IKBKAP) gene, with markedly low prevalence in the general population.1 The condition is characterized by profound autonomic dysregulation, including labile blood pressure, heart rate abnormalities, impaired baroreflexes, disordered thermoregulation, respiration, and gastrointestinal motility. Pregnancy introduces additional physiologic stress that may exacerbate symptoms, particularly during neuraxial anesthesia, yet optimal anesthetic management for cesarean delivery remains poorly described.2
Case Presentation: A G1P0 patient with FD at 36 weeks’ gestation presented for scheduled cesarean delivery. As pregnancy progressed, the patient developed worsening palpitations, hypotension, near-syncope and was initiated on propranolol by cardiology. Anesthesia was consulted approximately two weeks prior to delivery and recommended slow, titrated epidural anesthesia rather than spinal anesthesia in order to minimize the risk of abrupt sympathectomy and severe hypotension.
On the day of the scheduled delivery, preoperative vital signs were stable. Following prehydration with oral electrolyte solution and a 2-liter intravenous crystalloid bolus, epidural anesthesia was initiated in the operating room. Epidural placement was achieved on the first attempt at the L4-L5 interspace without complication. A test dose of lidocaine 1.5% with epinephrine (1:200,000) was administered at 09:07, followed by incremental boluses (~ 3 cc) of 2% lidocaine with epinephrine every three minutes to achieve surgical anesthesia (total of 18 cc). Epidural fentanyl 100 mcg was administered at 09:22. Surgical time-out occurred at 09:50, with skin incision at 09:51 and hysterotomy and delivery at 09:52.
A prophylactic phenylephrine infusion was initiated at 10 mcg/min shortly after the test dose, with a total intraoperative dose of 550 mcg. Hemodynamics remained stable throughout the procedure (heart rate 61–89 bpm; mean arterial pressure 75–100 mmHg). Epidural morphine 3 mg was administered at 10:09. The procedure concluded at 10:16, and the patient was transferred to the post-anesthesia care unit at 10:24.
Discussion/Conclusion: Familial dysautonomia is characterized by impaired baroreflex function and abnormal sympathetic–parasympathetic regulation, resulting in significant autonomic instability.3 Pregnancy-related cardiovascular adaptations may further destabilize autonomic control, increasing the risk of exaggerated hypotension, hypertensive episodes, and syncope—particularly during cesarean delivery, where pain, anxiety, uterine manipulation, and neuraxial anesthesia may precipitate dysautonomic crises.
Neuraxial anesthesia poses specific challenges in FD. Rapid sympathectomy from spinal anesthesia can cause profound hypotension and impaired uteroplacental perfusion due to limited compensatory responses. In contrast, slow, titrated epidural dosing allows gradual sympathetic blockade and improved hemodynamic control. In this case, incremental local anesthetic administration with aggressive prehydration and early phenylephrine support maintained stable perioperative hemodynamics and favorable maternal and neonatal outcomes. Although invasive arterial monitoring was considered, stable pre- and intra-operative hemodynamics permitted frequent non-invasive blood pressure monitoring.
Given the rarity of FD and absence of standardized guidelines, individualized multidisciplinary planning is essential. This case demonstrates that a carefully titrated epidural strategy with anticipatory hemodynamic management can effectively mitigate autonomic instability during cesarean delivery in this high-risk population.
