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Family Studies in Patients with the Sleep Apnea-Hypopnea Syndrome

Rajat Mathur, MD, MRCP; and Neil J. Douglas, MD, ChB, MD, FRCP
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From The University of Edinburgh, United Kingdom. Acknowledgments: The authors thank Dr. W. Patterson and partners for access to their registers for control participants. Grant Support: In part by the Chest, Heart & Stroke Association (United Kingdom).

Copyright ©2004 by the American College of Physicians

Ann Intern Med. 1995;122(3):174-178. doi:10.7326/0003-4819-122-3-199502010-00003
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Objective: To determine whether familial factors affect development of the sleep apnea–hypopnea syndrome and upper airway caliber.

Design: A case–control study.

Setting: Tertiary, referral clinical sleep laboratory.

Participants: 51 first-degree relatives of patients with the sleep apnea–hypopnea syndrome and 51 controls matched for age, sex, height, and weight who were drawn at random from a family practice register. To avoid studying the familial nature of obesity, only relatives of index patients with body mass indices less than 30.0 kg/m2 were recruited.

Measurements: Assessment of sleep-related symptoms; breathing, sleep, and oxygenation patterns on overnight polysomnograms; upper airway dimensions by acoustic reflection; and facial structure by lateral cephalometry.

Results: More relatives of patients with the sleep apnea–hypopnea syndrome reported snoring (24 relatives compared with 7 controls; P < 0.001) and daytime sleepiness (28 relatives compared with 16 controls; P = 0.01). Relatives had more apneas and hypopneas per hour (median of 13/h [95% CI, 3 to 82/h] for relatives compared with median of 4/h [CI, 0 to 53/h] for controls; P < 0.001), more arousals from sleep (30/h [CI, 11 to 87/h] for relatives compared with 17/h [CI, 4 to 59/h] for controls; P <0.001), poorer sleep quality, and more oxygen desaturations. Relatives also had narrower upper airways with retroposed maxillae and mandibles and longer soft palates with wider uvulae.

Conclusion: The sleep apnea–hypopnea syndrome has a strong familial component. The familial tendency may be caused by differences in facial structure.


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Figure 1.
Number of apneas plus hypopneas per hour of sleep.topbottomP

Compared with controls ( ), relatives ( ) of patients with the sleep apnea–hypopnea syndrome had more apneas plus hypopneas ( < 0.001).

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Grahic Jump Location
Figure 2.
Number of arousals per hour of sleep.topbottomP

Compared with controls ( ), relatives ( ) of patients with the sleep apnea–hypopnea syndrome had more arousals ( < 0.001).

Grahic Jump Location
Grahic Jump Location
Figure 3.
Cephalometric landmarks.

A = point A; ANS = anterior nasal spine; B = point B; Gn = gnathion; Go = gonion; N = nasion; PhW = posterior pharyngeal wall; PNS = posterior nasal spine; S = midpoint of sella turcica; SP = soft palate; T = tongue.

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