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Pathophysiology
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Obstructive Sleep Apnea Phenotypes: First Decade of Exploration and Beyond
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Obstructive Sleep Apnea Phenotypes: First Decade of Exploration and Beyond

A special issue of Pathophysiology (ISSN 1873-149X).

Deadline for manuscript submissions: 15 December 2026 | Viewed by 6504

Special Issue Editors

Prof. Dr. Jonathan Steven Alexander

E-Mail Website
Guest Editor
Department of Molecular and Cellular Physiology, LSU Health Shreveport, Shreveport, LA 71103, USA
Interests: neurophysiology; neurodegeneration; cellular neuroscience; neurobiology; stroke therapy; kidney and liver transplantation; 3D tissue engineering
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Oleg Chernyshev

E-Mail Website
Guest Editor
Sleep Medicine Division, Department of Neurology, Louisiana State University Health Sciences Center, Shreveport, LA, USA
Interests: sleep medicine; neurology; vascular neurology; headache; creatome neurosciences; mobile sleep medicine; precision sleep medicine

Special Issue Information

Dear Colleagues,

We would like to invite you to contribute to this Special Issue of Pathophysiology entitled “Obstructive Sleep Apnea Phenotypes: First Decade of Exploration and Beyond”.

Obstructive sleep apnea (OSA) is a common sleep disorder with a significant heterogeneity in presentation and substantial cardio-cerebrovascular morbidity and mortality. Current practice uses the Apnea–Hypopnea index (AHI) as the main tool for classification and stratification of OSA; however, this index does not consider the heterogeneity of the clinical presentation of OSA, as patients with the identical AHIs may express different symptoms, experience different responses to therapy, as well as have different comorbid associations. This gap in the current management of OSA has been a subject of research and discussion over the past 10 years. A proposed way to address this gap is to classify the disease through quantitative and qualitative clinical, demographic, pathophysiologic, polysomnographic, and neurophysiologic characteristics and generate homogeneous categories called “phenotypes”. It has been proposed that OSA phenotypes are “categories of patients with OSA distinguished from others by a single or combination of disease features in relation to clinically meaningful attributes (symptoms, response to therapy, health outcomes, quality of life)”. It is worth noticing that this definition differs from the status of “endotype”, which would require categorization through biological or genetic mechanisms; however, phenotypes allow for further disease stratification and possible therapy strategy generation reflected in the concept of precision sleep medicine.

This Special Issue intends to review and summarize the latest articles on OSA phenotypes and their significance on management, disease prognosis, and comorbid associations.

We welcome reviews, original studies, and case reports that contribute to the field of precision sleep medicine and improve our practical understanding of OSA diagnosis, prognosis, and management based on this novel clinical methodology.

We look forward to receiving your contributions.

Prof. Dr. Jonathan Steven Alexander
Prof. Dr. Oleg Chernyshev
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Pathophysiology is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • OSA phenotypes
  • OSA endotypes
  • precision sleep medicine
  • clinical polysomnographic OSA phenotypes
  • pathophysiologic OSA phenotypes
  • clinical neuro-physiologic OSA phenotypes
  • clinical symptom-based OSA phenotypes
  • quantitative
  • qualitative OSA phenotypes

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Published Papers (4 papers)

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Research

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16 pages, 4267 KB  
Article
Paranasal Sinus CT and Polysomnographic Findings in Adults with Cystic Fibrosis: Implications for Obstructive Sleep Apnea
by Matthias Welsner, Sarah Dietz-Terjung, Svenja Strassburg, Dirk Westhölter, Sivagurunathan Sutharsan, Christoph Schöbel, Christian Taube, Florian Stehling, Cornelius Kürten, Cornelius Deuschl, Michael Forsting, Sebastian Zensen, Johannes Haubold, Benedikt M. Schaarschmidt and Marcel Opitz
Pathophysiology 2026, 33(1), 6; https://doi.org/10.3390/pathophysiology33010006 - 14 Jan 2026
Viewed by 486
Abstract
Objective: To assess whether chronic rhinosinusitis (CRS) severity is associated with obstructive sleep apnea (OSA) in adult people with cystic fibrosis (pwCF). Methods: We conducted a retrospective single-center study of 44 adults with CF who underwent overnight polysomnography (PSG), Epworth Sleepiness Scale (ESS) [...] Read more.
Objective: To assess whether chronic rhinosinusitis (CRS) severity is associated with obstructive sleep apnea (OSA) in adult people with cystic fibrosis (pwCF). Methods: We conducted a retrospective single-center study of 44 adults with CF who underwent overnight polysomnography (PSG), Epworth Sleepiness Scale (ESS) assessment, and sinus computed tomography (CT). CRS severity was quantified using the Lund–Mackay score (LMS) and the main nasal cavity score (MNCS). OSA was defined by Apnea–Hypopnea Index (AHI) thresholds per American Academy of Sleep Medicine criteria. Results: Participants had a mean age of 31.1 ± 8.4 years and a mean percent predicted FEV1 of 51.8 ± 15.7. Sinus CT showed radiological evidence of CRS in all participants. Mean AHI was 5.3 ± 4.4/h; 48% had AHI ≥ 5/h. There were no significant differences between pwCF with and without OSA in age, sex, BMI, lung function, total sleep time, sleep efficiency, or ESS score (all p > 0.05). Mean LMS and MNCS did not differ between OSA and non-OSA groups (both p > 0.05), and neither score correlated with PSG parameters or ESS (all p > 0.05). Receiver operating characteristic (ROC) analysis demonstrated low discriminative ability of LMS and MNCS for predicting OSA (AUCs < 0.70, p < 0.05). Conclusions: In this cohort of adults with CF, CT-based CRS severity was not associated with OSA. Given the substantial prevalence of OSA observed, PSG screening should be considered irrespective of CRS severity. Full article
(This article belongs to the Special Issue Obstructive Sleep Apnea Phenotypes: First Decade of Exploration and Beyond)
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12 pages, 1226 KB  
Article
Three-Dimensional Airway Assessment as Diagnostic Aid in Obstructive Sleep Apnea
by Oscar Arturo Benítez-Cárdenas, Néstor Oliver Herrera-Salguero, Elhi Manuel Torres-Hernández, Miguel Angel Noyola-Frías, Ricardo Martínez-Rider and Marlen Vitales-Noyola
Pathophysiology 2025, 32(4), 50; https://doi.org/10.3390/pathophysiology32040050 - 26 Sep 2025
Viewed by 1748
Abstract
Background: Obstructive Sleep Apnea Syndrome (OSAS) is a prevalent and underdiagnosed condition with significant systemic and quality-of-life impacts. While polysomnography remains the gold standard for diagnosis, cone-beam computed tomography (CBCT) presents a potential adjunctive imaging tool for anatomical airway evaluation. Objective: [...] Read more.
Background: Obstructive Sleep Apnea Syndrome (OSAS) is a prevalent and underdiagnosed condition with significant systemic and quality-of-life impacts. While polysomnography remains the gold standard for diagnosis, cone-beam computed tomography (CBCT) presents a potential adjunctive imaging tool for anatomical airway evaluation. Objective: We aimed to assess the effectiveness of three-dimensional airway evaluation via CBCT as a complementary diagnostic tool for OSAS. Methods: A diagnostic test study (experimental pilot study) was conducted using CBCT scans of 30 patients, divided into two groups: 15 scans from patients with a confirmed OSAS diagnosis through polysomnography and 15 scans from healthy controls. Five tomographic variables were analyzed: anteroposterior distance, lateral distance, minimum cross-sectional area, airway volume, and airway shape. Statistical analysis was performed comparing both groups. Results: The minimum cross-sectional area and airway volume showed statistically significant differences between the OSAS and control groups (p = 0.038 and p = 0.0055, respectively). Anteroposterior and lateral distances showed trends toward significance but were not statistically significant. Conclusions: CBCT-based airway analysis, particularly focusing on volumetric and cross-sectional area parameters, demonstrates strong potential as a complementary tool in the diagnosis of peripheral-type OSAS. However, it cannot replace polysomnography, especially for central OSAS diagnosis. Full article
(This article belongs to the Special Issue Obstructive Sleep Apnea Phenotypes: First Decade of Exploration and Beyond)
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Review

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51 pages, 66404 KB  
Review
Redefining Obstructive Sleep Apnea: Treatment in the Modern Era
by Jose Redondo, Kori B. Ascher and Alexandre R. Abreu
Pathophysiology 2026, 33(1), 20; https://doi.org/10.3390/pathophysiology33010020 - 2 Mar 2026
Viewed by 1410
Abstract
Background: Obstructive sleep apnea (OSA) is a highly prevalent and heterogeneous disorder associated with substantial cardiometabolic morbidity. Although continuous positive airway pressure (CPAP) remains first-line therapy, long-term effectiveness is frequently limited by suboptimal adherence. Advances in airway devices, surgical techniques, neuromodulation, and pharmacologic [...] Read more.
Background: Obstructive sleep apnea (OSA) is a highly prevalent and heterogeneous disorder associated with substantial cardiometabolic morbidity. Although continuous positive airway pressure (CPAP) remains first-line therapy, long-term effectiveness is frequently limited by suboptimal adherence. Advances in airway devices, surgical techniques, neuromodulation, and pharmacologic therapies have expanded the therapeutic landscape and created opportunities for individualized, mechanism-based treatment. Methods: We conducted a selective, narrative review with structured quantitative synthesis of randomized controlled trials, comparative cohorts, long-term follow-up studies, registries, and mechanistic investigations addressing OSA therapies beyond CPAP. Evidence spanning oral appliances, upper-airway and skeletal surgery, hypoglossal nerve stimulation, neuromuscular electrical stimulation, positional therapy, and pharmacologic interventions targeting metabolic and non-anatomical endotypes was integrated. Outcomes of interest included apnea–hypopnea index (AHI), oxygenation, blood pressure, patient-reported symptoms, durability, safety, and real-world adherence. Results: Mandibular advancement devices (MADs) consistently reduced AHI relative to placebo and produced symptom relief comparable to CPAP in mild-to-moderate OSA, largely due to superior adherence. Palatal surgery yielded meaningful short-term improvement in selected patients but demonstrated limited long-term durability. In contrast, maxillomandibular advancement (MMA) achieved the largest and most durable reductions in OSA severity, with efficacy comparable to CPAP and superior to other surgical modalities in appropriate skeletal phenotypes. Hypoglossal nerve stimulation (HNS) produced substantial, durable improvements in AHI and symptoms with high adherence, supported by randomized trials, long-term follow-up, and real-world registry data; newer bilateral and proximal stimulation systems may further broaden candidacy. Neuromuscular electrical stimulation and positional therapy provided modest, phenotype-dependent benefits, primarily as adjunctive or early-stage interventions. A major advance is the emergence of metabolic and endotype-targeted pharmacotherapy: longitudinal data demonstrate a dose-dependent relationship between weight change and OSA progression or regression, while randomized trials show that GLP-1-based therapies—particularly dual GLP-1/GIP agonism with tirzepatide—produce large, clinically meaningful reductions in AHI and cardiometabolic risk in obesity-associated OSA. Additional pharmacologic strategies targeting ventilatory loop gain and arousal threshold further support an endotype-driven treatment paradigm. Conclusions: Contemporary OSA management is shifting from a CPAP-centric model toward a precision-guided, multimodal framework that aligns therapy with dominant anatomic and physiological contributors to airway collapse. Integrating metabolic, neuromodulatory, and structural interventions—often in combination—offers the potential for durable disease control and improved patient-centered outcomes. Future priorities include head-to-head and combination trials, long-term cardiovascular outcomes, cost-effectiveness analyses, and pragmatic tools to operationalize personalized OSA therapy in routine clinical practice. Full article
(This article belongs to the Special Issue Obstructive Sleep Apnea Phenotypes: First Decade of Exploration and Beyond)
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12 pages, 530 KB  
Review
Clinical Phenotypes of Obstructive Sleep Apnea: A Decade of Evidence Toward Personalized Management
by William Rosales, Srija Chowdary Vanka, Harjinder Singh, Paul Bhamrah, Malti Bhamrah, Naomi Ghildiyal, Cesar Liendo, Sheila Asghar, J. Steven Alexander and Oleg Y. Chernyshev
Pathophysiology 2026, 33(1), 2; https://doi.org/10.3390/pathophysiology33010002 - 22 Dec 2025
Viewed by 1608
Abstract
Background: Obstructive sleep apnea (OSA) is a heterogeneous disorder traditionally classified and stratified by the apnea–hypopnea index (AHI), which fails to capture variability in symptom burden, comorbid associations, and treatment responses. Clinical phenotyping has emerged as a promising strategy to improve disease [...] Read more.
Background: Obstructive sleep apnea (OSA) is a heterogeneous disorder traditionally classified and stratified by the apnea–hypopnea index (AHI), which fails to capture variability in symptom burden, comorbid associations, and treatment responses. Clinical phenotyping has emerged as a promising strategy to improve disease characterization and management over the last decade. Methods: We conducted a narrative literature review of studies published between January 2014 and December 2022 that used cluster analysis to define OSA phenotypes in adults with moderate-to-severe disease (AHI ≥ 15 events/h). Eligible studies employed validated questionnaires, symptom reporting, and comorbidity profiling to identify subgroups. Findings were summarized across diverse populations, with emphasis on phenotype reproducibility, comorbidity associations, and treatment implications. Results: Across international cohorts, three reproducible symptom-based phenotypes were consistently identified: excessively sleepy (ES), disturbed sleep (DS), and minimally symptomatic (MS). Additional subtypes, such as upper airway dominant (UA) and moderately sleepy (MoS), were described in larger cohorts. Phenotypes differed in demographic profiles, comorbidity burden, and treatment adherence. ES patients exhibited the greatest symptom burden, higher cardiovascular risk, and better adherence to positive airway pressure (PAP) therapy, with significant symptomatic improvement. DS patients frequently reported insomnia symptoms, showed modest PAP-related gains, and may benefit from adjunctive insomnia-targeted interventions. MS patients, despite low symptom burden, often carried substantial comorbidity risk, specifically buildup of OSA-related cardiovascular risk. Conclusions: Symptom-based OSA phenotypes are reproducible across diverse populations and provide clinically meaningful insights beyond AHI. They allow for improved risk stratification, highlight gaps in detection of minimally symptomatic patients, and inform personalized treatment strategies. Integrating phenotyping into clinical practice has the potential to enhance diagnostic accuracy, optimize therapeutic outcomes, and refine cardiovascular risk prediction in OSA. Full article
(This article belongs to the Special Issue Obstructive Sleep Apnea Phenotypes: First Decade of Exploration and Beyond)
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