Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study

Sleep
Jose-Alberto PalmaHoracio Kaufmann

Abstract

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 no...Continue Reading

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Citations

Sep 10, 2020·Seminars in Neurology·Lucy Norcliffe-KaufmannHoracio Kaufmann
May 21, 2018·Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society·Mitchell G Miglis, Srikanth Muppidi
Jan 9, 2020·The New England Journal of Medicine·Horacio KaufmannJose-Alberto Palma
Jan 15, 2019·Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society·Horacio KaufmannJose-Alberto Palma
Dec 14, 2017·Lung·Bat-El Bar-AlumaLucy Norcliffe-Kaufmann
Oct 18, 2018·Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society·Jose-Alberto Palma
Jan 10, 2021·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·William P CheshireWolfgang Singer
May 6, 2021·Neurology·Guillaume LamotteWolfgang Singer

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