SLEEP APNEA PHENOTYPES AND ENDOTYPES: A LITERATURE REVIEW

Abstract

Objectives: This study explores the relevance of identifying phenotypes and endotypes in the diagnosis and management of OSAS, offering an evidence-based systematic review. It seeks to consolidate scientific advances, address clinical challenges, and discuss controversies, aiming at a more effective and patient-centered clinical practice. It is expected to promote individualized strategies that improve the health and quality of life of patients. Method: The research is a literature review, with a survey in PubMed using the keywords "endotypes and phenotypes in obstructive sleep apnea". We used 17 articles published between 2019 and 2024, in English and with free full text, excluding studies on comorbidities, treatments, and specific ethnicities. Results: Obstructive sleep apnea syndrome (OSAS) is a chronic disorder characterized by recurrent collapse of the upper airways during sleep, resulting in hypoxemia and sleep fragmentation. Symptoms include snoring, daytime sleepiness, fatigue and cognitive impairments, affecting quality of life. OSAS is a prevalent and underdiagnosed comorbidity, often associated with cardiovascular, metabolic, and neuropsychiatric diseases. Anatomical factors, such as obesity and craniofacial alterations, and non-anatomical factors, such as instability in ventilatory control, influence its development. Personalized treatment, considering endotypes and phenotypes, is crucial to improve therapeutic efficacy, such as CPAP, medications, mandibular advancement devices, and nerve stimulation. Conclusion: Knowing that OSAS is a chronic and heterogeneous respiratory disorder, whose diagnosis and management are challenging, it is of paramount importance to integrate new approaches, such as the classification of subgroups based on phenotypes and endotypes, enhancing clinical practice, providing a more accurate and robust diagnosis with personalized treatments and better clinical outcomes, promoting patient-centered care.