Palma Jose-Alberto, Norcliffe-Kaufmann Lucy, Perez Miguel A, Spalink Christy L, Kaufmann Horacio
Department of Neurology, Dysautonomia Center, New York University School of Medicine, New York, NY.
Sleep. 2017 Aug 1;40(8). doi: 10.1093/sleep/zsx083.
Sudden unexpected death during sleep (SUDS) is the most common cause of death in patients with familial dysautonomia (FD), an autosomal recessive disease characterized by sensory and autonomic dysfunction. It remains unknown what causes SUDS in these patients and who is at highest risk. We tested the hypothesis that SUDS in FD is linked to sleep-disordered breathing.
We retrospectively identified patients with FD who died suddenly and unexpectedly during sleep and had undergone polysomnography within the 18-month period before death. For each case, we sampled one age-matched surviving subject with FD that had also undergone polysomnography within the 18-month period before study. Data on polysomnography, EKG, ambulatory blood pressure monitoring, arterial blood gases, blood count, and metabolic panel were analyzed.
Thirty-two deceased cases and 31 surviving controls were included. Autopsy was available in six cases. Compared with controls, participants with SUDS were more likely to be receiving treatment with fludrocortisone (odds ratio [OR]; 95% confidence interval) (OR 29.7; 4.1-213.4), have untreated obstructive sleep apnea (OR 17.4; 1.5-193), and plasma potassium levels <4 mEq/L (OR 19.5; 2.36-161) but less likely to use noninvasive ventilation at night (OR 0.19; 0.06-0.61).
Initiation of noninvasive ventilation when required and discontinuation of fludrocortisone treatment may reduce the high incidence rate of SUDS in patients with FD. Our findings contribute to the understanding of the link between autonomic, cardiovascular, and respiratory risk factors in SUDS.
睡眠中意外猝死（SUDS）是家族性自主神经功能障碍（FD）患者最常见的死亡原因，FD是一种常染色体隐性疾病，其特征为感觉和自主神经功能障碍。目前尚不清楚这些患者发生SUDS的原因以及谁的风险最高。我们检验了FD患者的SUDS与睡眠呼吸障碍有关这一假设。
我们回顾性地确定了在睡眠中突然意外死亡且在死亡前18个月内接受过多导睡眠图检查的FD患者。对于每例病例，我们选取一名年龄匹配的存活FD受试者作为对照，该受试者在研究前18个月内也接受过多导睡眠图检查。分析了多导睡眠图、心电图、动态血压监测、动脉血气、血细胞计数和代谢指标的数据。
纳入了32例死亡病例和31例存活对照。6例进行了尸检。与对照组相比，SUDS患者更可能正在接受氟氢可的松治疗（优势比[OR]；95%置信区间）（OR 29.7；4.1 - 213.4），有未经治疗的阻塞性睡眠呼吸暂停（OR 17.4；1.5 - 193），血浆钾水平<4 mEq/L（OR 19.5；2.36 - 161），但夜间使用无创通气的可能性较小（OR 0.19；0.06 - 0.61）。
必要时启动无创通气并停用氟氢可的松治疗可能降低FD患者SUDS的高发生率。我们的研究结果有助于理解SUDS中自主神经、心血管和呼吸风险因素之间的联系。
