Abstract
Ehlers-Danlos syndrome is a group of hereditary connective tissue disorders caused by defects in collagen synthesis and structure that manifests as tissue fragility, hypermobility, and vascular abnormalities. Patients with Ehlers-Danlos syndrome are at a high risk of developing obstructive sleep apnea due to increased tissue laxity in the upper airway, in addition to nasal–maxillary cartilaginous defects, scoliosis, or other abnormalities. Here we present the case of a patient with Ehlers-Danlos syndrome who underwent successful treatment of obstructive sleep apnea using hypoglossal nerve stimulation after continuous positive airway pressure therapy failure, demonstrating that this can be a useful treatment modality in this population.
Citation:
Miller SM, Miller MB. Treatment of obstructive sleep apnea with hypoglossal nerve stimulation in a patient with Ehlers-Danlos syndrome. J Clin Sleep Med. 2023;19(3):631–632.
Keywords: obstructive sleep apnea syndrome, hypoglossal nerve stimulation, Ehlers-Danlos syndrome
INTRODUCTION
Ehlers-Danlos Syndrome (EDS) is a hereditary connective tissue disorder caused by defects in collagen synthesis that affects 1.5 million people worldwide.1 EDS is characterized as a hypermobility disorder that has 13 different subtypes with a variety of manifestations, including skin and joint hyperlaxity, craniofacial abnormalities, deformities of the chest and spinal cord, and vascular anomalies.1 Some patients are asymptomatic or have mild skin and joint hypermobility, while others are severely disabled. People with EDS are at a higher risk than the rest of the population for obstructive sleep apnea (OSA), with a prevalence of 39.4%1 compared to an estimated 26% of adults in the United States.2 This increased risk is caused by a combination of factors, especially increased tissue laxity and upper airway and nasal–maxillary cartilaginous defects, which lead to increased nasal airway resistance and collapse and increased pharyngeal collapsibility.1,3,4 Other contributing abnormalities may include mandibular retrognathia, high arched palate, vocal cord abnormalities, chest deformities, and scoliosis.1,3 In a 2017 study by Gaisl et al looking at OSA in EDS, having EDS was comparable to that of a +11-kg/m2 body mass index gain in the general population.5 While EDS has several subtypes, no difference in prevalence of OSA or mean apnea-hypopnea index has been found among the classic, vascular, hypermobility, or other EDS subtypes.4
Here we present a case of OSA in a patient with EDS who was successfully treated with hypoglossal nerve stimulation (HGNS).
REPORT OF CASE
A 33-year-old female with EDS presented with moderate OSA syndrome. Her complaints included excessive daytime somnolence, fatigue, morning headaches, and loud snoring. Primary EDS findings included joint hypermobility and skin elasticity. No craniofacial abnormalities were noted. Four-channel home polysomnography revealed an apnea-hypopnea index of 24.1 events/h using the 4% rule. Oxygen nadir was 82%. Epworth sleepiness score was 15, indicating excessive sleepiness. Continuous positive airway pressure (CPAP) titration was performed with reduction of events at 14 cm; however, she was unable to tolerate CPAP due to severe aerophagia despite attempts with several different masks. Oral appliance therapy was also attempted, but she was unable to wear the device consistently due to subconscious removal.
On physical examination she weighed 128 pounds (58 kg), was 63 inches (160 cm) in height, and had a body mass index of 22.7 kg/m2 and a neck circumference of 13.5 inches (34 cm). Oropharyngeal examination was normal with small tonsils present. Drug-induced sleep endoscopy was performed and revealed significant base of tongue collapse with no lateral or circumferential collapse.
The patient underwent uncomplicated hypoglossal nerve stimulator implantation. Postoperative in-laboratory polysomnography was performed at 4 months with a standard multichannel array and 4% rule for scoring. Hypoglossal nerve stimulation was set at 2.4 V for the entire study. Testing revealed an apnea-hypopnea index of 0.6 events/h with oxygen nadir of 94% and minimal snoring. Epworth sleepiness score was 6. She also reported significant reduction in her daytime fatigue and somnolence.
DISCUSSION
HGNS has demonstrated treatment success for OSA in select patients who have failed CPAP therapy.6–8 The Stimulation Therapy for Apnea Reduction (STAR) trial followed patients for 5 years and measured improvement of apnea-hypopnea index, oxygen desaturation index, adverse effects, sleepiness, quality of life, and snoring.6,7 Apnea-hypopnea index response rate (apnea-hypopnea index less than 20 events/h and greater than 50% reduction) was 75%.7 The responder rate was 63% at 5 years.7 HGNS was approved by the Food and Drug Administration in 2014 for the treatment of moderate and severe OSA in adults.
In this case, we demonstrate the efficacy of HGNS as a treatment modality in a patient with moderate OSA and EDS after failed CPAP and oral appliance therapy. To our knowledge, this is the first case of a patient with EDS successfully treated with HGNS.
The association of EDS and OSA has been previously recognized. While the etiology of the increased risk of OSA in EDS patients remains unclear, increased tissue laxity and airway collapsibility have been suggested as a mechanism. HGNS may offer benefit to these patients by stabilizing the upper airway through muscular stimulation.
Given the significant prevalence of OSA in patients with EDS, HGNS should be considered as a possible treatment modality for these patients who do not respond to CPAP or oral appliance therapy.
DISCLOSURE STATEMENT
All authors have approved the manuscript. Work for this study was performed at BayCare Health Systems in Clearwater, Florida. The authors report no conflicts of interest.
ABBREVIATIONS
- CPAP
continuous positive airway pressure
- EDS
Ehlers-Danlos syndrome
- HGNS
hypoglossal nerve stimulation
- OSA
obstructive sleep apnea
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