| Abstract [eng] |
Relevance of the problem: Obstructive sleep apnea is the most prevalent sleep-disordered breathing condition, affecting approximately 1 billion people worldwide. Up to 60% of obstructive sleep apnea patients also suffer from cardiovascular disease, up to 80% from metabolic diseases, and 25% from neurocognitive impairement. Obesity, which has more than doubled in adults since 1900, is a major risk factor for obstructive sleep apnea and is associated with a more severe progression of the disease. Despite its widespread occurrence and significant health impact, up to 80% of obstructive sleep apnea cases remain undiagnosed or undertreated due to its non-specific and variable symptoms, as well as the limitations of traditional diagnostic and therapeutic approaches. The apnea-hypopnea index, commonly used to assess disease severity, fails to capture the complexity of obstructive sleep apnea, as it does not accurately reflect individual disease outcomes or treatment efficacy. Phenotyping and endotyping offer a more precise approach by enabling better risk stratification, improved assessment of disease severity, prediction of treatment response, and selection of targeted therapies, ultimately enhancing patient outcomes. Aim: To provide an overview of the phenotypes and endotypes of obstructive sleep apnea and their implications for treatment selection and management. Methods: The scientific literature search was conducted in PubMed, ScienceDirect, Scopus, Web of Science, Cochrane Library, and Google Scholar using specific keyword combinations. Article selection was guided by predefined inclusion and exclusion criteria. The literature review includes peer-reviewed articles published in Lithuanian or English languages within the last five years, except for key earlier studies. Systematic reviews, meta-analyses, clinical trials on obstructive sleep apnea phenotypes, endotypes, and treatment, as well as official clinical guidelines and national diagnostic and treatment recommendations, were also included. Results: Obstructive sleep apnea is a heterogeneous disorder, with phenotypes and endotypes playing an important role in determining disease severity and treatment response. Clinical phenotypes are defined by race, ethnicity, gender, age, body weight, craniofacial anatomy, symptoms, polysomnographic features, and comorbidities, while pathophysiological endotypes, including compromised upper airway, low arousal threshold, high loop gain, and impaired upper airway muscle function, help guide treatment selection and predict its effectiveness. Although continuous positive airway pressure remains the gold standard therapy, many patients struggle with adherence. Alternative or combination therapies, such as mandibular advancement devices, positional therapy, weight reduction, surgery, myofunctional therapy, or hypoglossal nerve stimulation, may be more suitable depending on the patient's phenotype and endotype. Conclusions: Obstructive sleep apnea is a clinically heterogeneous disorder, with its severity influenced by demographic, anthropometric and polysomnographic factors, symptoms, comorbidities, and underlying pathophysiological mechanisms. Phenotyping and endotyping enable the prediction of continuous positive airway pressure therapy efficacy and support the optimisation of alternative treatment strategies for patients with suboptimal response to this therapy. |
