-
European Respiratory Review : An... Mar 2019Obesity hypoventilation syndrome (OHS) is defined as a combination of obesity (body mass index ≥30 kg·m), daytime hypercapnia (arterial carbon dioxide tension... (Review)
Review
Obesity hypoventilation syndrome (OHS) is defined as a combination of obesity (body mass index ≥30 kg·m), daytime hypercapnia (arterial carbon dioxide tension ≥45 mmHg) and sleep disordered breathing, after ruling out other disorders that may cause alveolar hypoventilation. OHS prevalence has been estimated to be ∼0.4% of the adult population. OHS is typically diagnosed during an episode of acute-on-chronic hypercapnic respiratory failure or when symptoms lead to pulmonary or sleep consultation in stable conditions. The diagnosis is firmly established after arterial blood gases and a sleep study. The presence of daytime hypercapnia is explained by several co-existing mechanisms such as obesity-related changes in the respiratory system, alterations in respiratory drive and breathing abnormalities during sleep. The most frequent comorbidities are metabolic and cardiovascular, mainly heart failure, coronary disease and pulmonary hypertension. Both continuous positive airway pressure (CPAP) and noninvasive ventilation (NIV) improve clinical symptoms, quality of life, gas exchange, and sleep disordered breathing. CPAP is considered the first-line treatment modality for OHS phenotype with concomitant severe obstructive sleep apnoea, whereas NIV is preferred in the minority of OHS patients with hypoventilation during sleep with no or milder forms of obstructive sleep apnoea (approximately <30% of OHS patients). Acute-on-chronic hypercapnic respiratory failure is habitually treated with NIV. Appropriate management of comorbidities including medications and rehabilitation programmes are key issues for improving prognosis.
Topics: Adult; Body Mass Index; Continuous Positive Airway Pressure; Female; Humans; Hypercapnia; Lung; Male; Middle Aged; Noninvasive Ventilation; Obesity; Obesity Hypoventilation Syndrome; Pulmonary Ventilation; Quality of Life; Recovery of Function; Risk Factors; Treatment Outcome
PubMed: 30872398
DOI: 10.1183/16000617.0097-2018 -
European Respiratory Review : An... Sep 2019COPD and obstructive sleep apnoea (OSA) are highly prevalent and different clinical COPD phenotypes that influence the likelihood of comorbid OSA. The increased lung... (Review)
Review
COPD and obstructive sleep apnoea (OSA) are highly prevalent and different clinical COPD phenotypes that influence the likelihood of comorbid OSA. The increased lung volumes and low body mass index (BMI) associated with the predominant emphysema phenotype protects against OSA whereas the peripheral oedema and higher BMI often associated with the predominant chronic bronchitis phenotype promote OSA. The diagnosis of OSA in COPD patients requires clinical awareness and screening questionnaires which may help identify patients for overnight study. Management of OSA-COPD overlap patients differs from COPD alone and the survival of overlap patients treated with nocturnal positive airway pressure is superior to those untreated. Sleep-related hypoventilation is common in neuromuscular disease and skeletal disorders because of the effects of normal sleep on ventilation and additional challenges imposed by the underlying disorders. Hypoventilation is first seen during rapid eye movement (REM) sleep before progressing to involve non-REM sleep and wakefulness. Clinical presentation is nonspecific and daytime respiratory function measures poorly predict nocturnal hypoventilation. Monitoring of respiration and carbon dioxide levels during sleep should be incorporated in the evaluation of high-risk patient populations and treatment with noninvasive ventilation improves outcomes.
Topics: Comorbidity; Humans; Hypoventilation; Lung; Prognosis; Pulmonary Disease, Chronic Obstructive; Pulmonary Ventilation; Respiration; Risk Factors; Sleep; Sleep Apnea, Obstructive
PubMed: 31554703
DOI: 10.1183/16000617.0064-2019 -
Orphanet Journal of Rare Diseases Sep 2020Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of... (Review)
Review
BACKGROUND
Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. BODY: This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research.
CONCLUSION
Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.
Topics: Adult; Child; Homeodomain Proteins; Humans; Hypoventilation; Mutation; Sleep Apnea, Central; Transcription Factors
PubMed: 32958024
DOI: 10.1186/s13023-020-01460-2 -
Respiratory Care Jun 2019Neuromuscular diseases are a heterogeneous group of neurologic diseases that affect a number of neural structures including the motor nerves, neuromuscular junctions, or... (Review)
Review
Neuromuscular diseases are a heterogeneous group of neurologic diseases that affect a number of neural structures including the motor nerves, neuromuscular junctions, or the muscles themselves. Although many of the diseases are rare, the total number of individuals who present to a pulmonologist or respiratory care provider is significant. Approaches to care include regular and careful clinical follow-up of symptoms of sleep-disordered breathing, daytime hypoventilation, as well as cough and swallowing effectiveness. Noninvasive support with nocturnal mask ventilation and a pressure support device can be extraordinarily helpful and delay daytime ventilatory failure. When daytime ventilatory failure develops, other noninvasive methods are available for portable assistance. Support of cough function with manual assistance, a resuscitator bag, and/or mechanical insufflation-exsufflation can help prevent and treat infection. Referral for swallowing evaluation and treatment is very important for those with impaired bulbar function. This comprehensive respiratory care approach to individuals with neuromuscular disease and respiratory system involvement is essential to maintaining the health and longevity of these individuals.
Topics: Cough; Deglutition; Humans; Hypoventilation; Insufflation; Laryngeal Masks; Neuromuscular Diseases; Noninvasive Ventilation; Oxygen Inhalation Therapy; Respiratory Therapy; Sleep Apnea Syndromes
PubMed: 31110036
DOI: 10.4187/respcare.06827 -
American Journal of Respiratory and... Aug 2019The purpose of this guideline is to optimize evaluation and management of patients with obesity hypoventilation syndrome (OHS). A multidisciplinary panel identified and...
The purpose of this guideline is to optimize evaluation and management of patients with obesity hypoventilation syndrome (OHS). A multidisciplinary panel identified and prioritized five clinical questions. The panel performed systematic reviews of available studies (up to July 2018) and followed the Grading of Recommendations, Assessment, Development, and Evaluation evidence-to-decision framework to develop recommendations. All panel members discussed and approved the recommendations. After considering the overall very low quality of the evidence, the panel made five conditional recommendations. We suggest that: ) clinicians use a serum bicarbonate level <27 mmol/L to exclude the diagnosis of OHS in obese patients with sleep-disordered breathing when suspicion for OHS is not very high (<20%) but to measure arterial blood gases in patients strongly suspected of having OHS, ) stable ambulatory patients with OHS receive positive airway pressure (PAP), ) continuous positive airway pressure (CPAP) rather than noninvasive ventilation be offered as the first-line treatment to stable ambulatory patients with OHS and coexistent severe obstructive sleep apnea, ) patients hospitalized with respiratory failure and suspected of having OHS be discharged with noninvasive ventilation until they undergo outpatient diagnostic procedures and PAP titration in the sleep laboratory (ideally within 2-3 mo), and ) patients with OHS use weight-loss interventions that produce sustained weight loss of 25% to 30% of body weight to achieve resolution of OHS (which is more likely to be obtained with bariatric surgery). Clinicians may use these recommendations, on the basis of the best available evidence, to guide management and improve outcomes among patients with OHS.
Topics: Humans; Obesity Hypoventilation Syndrome; United States
PubMed: 31368798
DOI: 10.1164/rccm.201905-1071ST -
The Journal of Clinical Endocrinology... Jul 2020Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal...
CONTEXT
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing.
OBJECTIVE
The purpose of this work is to describe the clinical timeline of symptoms of ROHHAD(NET) and propose recommendations for diagnosis and follow-up.
DESIGN
We conducted a systematic review of all ROHHAD(NET) case studies and report a new ROHHAD patient with early diagnosis and multidisciplinary care.
METHODS
All the articles that meet the definition of ROHHAD(NET) and provide chronological clinical data were reviewed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis individual patient data guidelines. The data were grouped into 7 categories: hypothalamic dysfunction, autonomic dysregulation, hypoventilation, NET, psychiatric symptoms, other clinical manifestations, and outcome.
RESULTS
Forty-three individual patient data descriptions were analyzed. The timeline of the disease shows rapid-onset obesity followed shortly by hypothalamic dysfunction. Dysautonomia was reported at a median age of 4.95 years and hypoventilation at 5.33 years, or 2.2 years after the initial obesity. A NET was reported in 56% of the patients, and 70% of these tumors were diagnosed within 2 years after initial weight gain.
CONCLUSION
Because early diagnosis improves the clinical management and the prognosis in ROHHAD(NET), this diagnosis should be considered for any child with rapid and early obesity. We propose guidance for systematic follow-up and advise multidisciplinary management with the aim of improving prognosis and life expectancy.
Topics: Adrenal Gland Neoplasms; Autonomic Nervous System Diseases; Ganglioneuroblastoma; Ganglioneuroma; Humans; Hypothalamic Diseases; Hypoventilation; Obesity; Prognosis; Syndrome
PubMed: 32407531
DOI: 10.1210/clinem/dgaa247 -
Current Neurology and Neuroscience... Mar 2023This paper reviews how sleep is impacted in patients with Prader-Willi syndrome (PWS), focusing on sleep-related breathing disturbances and excessive daytime sleepiness... (Review)
Review
PURPOSE OF REVIEW
This paper reviews how sleep is impacted in patients with Prader-Willi syndrome (PWS), focusing on sleep-related breathing disturbances and excessive daytime sleepiness (EDS).
RECENT FINDINGS
Hypothalamic dysfunction may underlie several aspects of the PWS phenotype. Central sleep apnea (CSA) can persist beyond infancy. Nocturnal hypoventilation is common and may occur without central or obstructive sleep apnea (OSA). Adenotonsillectomy, a mainstay of OSA treatment, may cause velopharyngeal insufficiency. Growth hormone (GH) is considered safe, but close surveillance for OSA remains important. Cardiac autonomic dysfunction occurs during slow wave sleep and may increase the risk of cardiovascular events. EDS and narcolepsy are also common. Modafinil and pitolisant are treatment options currently being studied. Sleep disorders are prevalent in individuals with PWS. Sleep-related breathing disorders present as CSA in infancy and later in life as OSA and hypoventilation. GH therapy has improved the clinical outcomes of patients with PWS, but close surveillance and treatment for OSA is recommended. EDS can persist even after sleep-related breathing disorders are treated, and some individuals may even develop narcolepsy. Early recognition and treatment of sleep-related disorders may prevent morbidity and result in improved survival of patients with PWS.
Topics: Humans; Prader-Willi Syndrome; Hypoventilation; Polysomnography; Sleep; Sleep Apnea, Obstructive; Disorders of Excessive Somnolence; Narcolepsy
PubMed: 36790642
DOI: 10.1007/s11910-023-01254-6 -
European Respiratory Review : An... Sep 2013While obstructive sleep apnoea syndrome dominates discussion of the prevalence of sleep disordered breathing, nocturnal hypoventilation remains extremely prevalent in... (Review)
Review
While obstructive sleep apnoea syndrome dominates discussion of the prevalence of sleep disordered breathing, nocturnal hypoventilation remains extremely prevalent in those with chronic ventilatory disorders and in the natural history of these conditions pre-dates the development of daytime ventilatory failure. In this review the clinical management of chronic hypoventilation in neuromuscular disease will be considered and then compared with that in obesity hypoventilation syndrome. In simple terms these conditions illustrate the polar opposite ends of the spectrum, as in neuromuscular disease the reduced capacity of the respiratory system is unable to withstand a normal respiratory load, and in obesity hypoventilation syndrome the normal capacity of the respiratory system is unable to tolerate a substantially increased ventilatory load.
Topics: Chronic Disease; Circadian Rhythm; Humans; Hypoventilation; Lung; Neuromuscular Diseases; Obesity Hypoventilation Syndrome; Pulmonary Ventilation; Respiration, Artificial; Risk Factors; Treatment Outcome
PubMed: 23997060
DOI: 10.1183/09059180.00003113 -
Sleep Sep 2022Obesity hypoventilation syndrome (OHS) is defined as daytime hypercapnia in obese individuals in the absence of other underlying causes. In the United States, OHS is... (Review)
Review
Obesity hypoventilation syndrome (OHS) is defined as daytime hypercapnia in obese individuals in the absence of other underlying causes. In the United States, OHS is present in 10%-20% of obese patients with obstructive sleep apnea and is linked to hypoventilation during sleep. OHS leads to high cardiorespiratory morbidity and mortality, and there is no effective pharmacotherapy. The depressed hypercapnic ventilatory response plays a key role in OHS. The pathogenesis of OHS has been linked to resistance to an adipocyte-produced hormone, leptin, a major regulator of metabolism and control of breathing. Mechanisms by which leptin modulates the control of breathing are potential targets for novel therapeutic strategies in OHS. Recent advances shed light on the molecular pathways related to the central chemoreceptor function in health and disease. Leptin signaling in the nucleus of the solitary tract, retrotrapezoid nucleus, hypoglossal nucleus, and dorsomedial hypothalamus, and anatomical projections from these nuclei to the respiratory control centers, may contribute to OHS. In this review, we describe current views on leptin-mediated mechanisms that regulate breathing and CO2 homeostasis with a focus on potential therapeutics for the treatment of OHS.
Topics: Humans; Hypercapnia; Hypoventilation; Leptin; Obesity; Obesity Hypoventilation Syndrome
PubMed: 35778900
DOI: 10.1093/sleep/zsac153 -
American Journal of Respiratory and... Nov 2021
Topics: Humans; Hypoventilation; Sleep Apnea Syndromes; Sleep Apnea, Central; Transcription Factors
PubMed: 34634223
DOI: 10.1164/rccm.202108-1989ED