SESSION TYPE: Miscellaneous Case Report Posters II
PRESENTED ON: Tuesday, October 23, 2012 at 01:30 PM - 02:30 PM
INTRODUCTION: Familial Dysautonomia (FD) is an autosomal recessive, sensory and autonomic neuropathy, most commonly found in patients of Ashkenazi Jewish decent. Autonomic dysfunction accounts for the majority of the clinical features of FD. Patients can suffer from orthostatic hypotension, autonomic crises with severe hypertension triggered by stressors, gastrointestinal motility and bladder dysfunction, decreased tearing, abnormal sweating and temperature dysregulation. Patients with FD have blunted respiratory and cardiovascular responses to hypoxia that may be linked the increased incidence of sudden death in this disorder.
CASE PRESENTATION: The DHMC Sleep Disorders Clinic has followed three patients who are moderately to severely affected by Familial Dysautonomia and were found to have sleep-related breathing disorders. The first patient is a 26 year-old female with severe FD, who was noted to have daytime hypercapnia (PaCO2 50 mmHg). She underwent a PSG and was found to have sleep-related hypoxemia-hypoventilation and mild obstructive sleep apnea (AHI 13). She was initiated on BIPAP, which she uses for 2-4 hours per day, but has not lead to improvement in her hypercapnia. The second patient is a 33 year-old male with a history of mild, positional OSA diagnosed on PSG in the late 90s. He reported worsening daytime sleepiness despite positional therapy and in 2008 underwent a PSG which showed overall AHI 13. He did not have evidence of sleep related hypoxemia/hypoventilation on the PSG in 2008. Patient opted for trial of CPAP, and has done well on CPAP therapy. The final patient is a 29 year-old male with FD who was initially evaluated for frequent autonomic crises in the early morning. He underwent a PSG in 2009 which was negative for OSA (AHI 2.6). His baseline oxygen saturation did drop from 96% to 91% for extended portions of the study, but he did not meet criteria for sleep related hypoxemia/hypoventilation. He returned to follow up after a daytime arterial blood gas in 2011 showed hypercapnia (PaCO2 49 mmHg) and was initiated on BIPAP with excellent adherence and improvement of PaCO2 levels.
DISCUSSION: Patients with familial dysautonomia have an abnormal response to hypoxia that increases their risk of sleep related breathing disorders.
CONCLUSIONS: Introduction of CPAP or BIPAP may improve overall health, symptoms and functioning.
1) Bernardi L, Hilz M, Stemper B, Passino C, Welsch G, Axelrod FB. Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia. Am J Respir Crit Care Med. 2003;167(2):141.
DISCLOSURE: The following authors have nothing to disclose: Jennifer Lacy
No Product/Research Disclosure InformationDartmouth Hitchcock Medical Center, Lebanon, NH