Hypoventilation Syndromes Clinical Presentation

  • Author: Jazeela Fayyaz, DO; Chief Editor: Zab Mosenifar, MD   more...
 
Updated: Apr 20, 2012
 

History

The clinical manifestations of hypoventilation syndromes usually are nonspecific, and in most cases, they are secondary to the underlying clinical diagnosis. Manifestations vary depending on the severity of hypoventilation, the rate of development of hypercapnia, and the degree of compensation for respiratory acidosis that may be present.

Progression

During the early stages of hypoventilation with mild to moderate hypercapnia, patients usually are asymptomatic or have only minimal symptoms.

Patients may be anxious and complain of dyspnea with exertion. As the degree of hypoventilation progresses, patients develop dyspnea at rest. Some patients may have disturbed sleep and daytime hypersomnolence.

As the hypoventilation continues to progress, more patients develop increased hypercapnia and hypoxemia. Therefore, they may have clinical manifestations of hypoxemia, such as cyanosis, and they also may have signs related to their hypercapnia.

Other symptoms of worsening hypoventilation can include the progression of anxiety to delirium; in addition, patients can become increasingly confused, somnolent, and obtunded. This condition occasionally is referred to as carbon dioxide narcosis.

Patients may develop asterixis, myoclonus, and seizures in severe hypercapnia. Papilledema may be seen in some individuals secondary to increased intracranial pressure related to cerebral vasodilation. Conjunctival and superficial facial blood vessel dilation also may be noted.

Patients with respiratory muscle weakness usually display generalized weakness secondary to their underlying neuromuscular disorder. Respiratory muscle weakness also may lead to impaired cough and recurrent lower respiratory tract infections.

With advanced disease, patients may develop respiratory failure and require ventilatory support.

Central alveolar hypoventilation

Patients with central alveolar hypoventilation usually have no respiratory complaints. However, they may have symptoms of sleep disturbance and daytime hypersomnolence. In some patients, the diagnosis of central alveolar hypoventilation is made only after the development of respiratory failure.

Obesity hypoventilation syndrome

Patients with OHS typically report symptoms of OSA, such as daytime hypersomnolence, fatigue, loud snoring, nocturnal choking, and morning headaches. They may also have pulmonary hypertension and chronic right-sided heart failure (cor pulmonale), with secondary peripheral edema in advanced disease.

Chronic obstructive pulmonary disease

Patients with COPD and hypoventilation usually have severe disease and complain of significant dyspnea. They also may have peripheral edema secondary to pulmonary hypertension with cor pulmonale.

Next

Physical Examination

In patients with alveolar hypoventilation, the findings upon physical examination usually are nonspecific and are related to the underlying illness.

Thoracic examination

Upon thoracic examination, patients with obstructive lung disease have diffuse wheezing, hyperinflation (barrel chest), diffusely decreased breath sounds, hyperresonance upon percussion, and prolonged expiration.

Coarse crackles beginning with inspiration may be heard, and wheezes frequently are heard upon forced and unforced expiration. Cyanosis may be noted if accompanying hypoxia is present. Clubbing may be present.

Pulmonary hypertension

Patients with central alveolar hypoventilation, COPD, and OHS may show evidence of pulmonary hypertension from examination findings. These findings include a narrowly split and loud pulmonary component (P2) of the second heart sound, a large a-wave component in the jugular venous pulse, a left parasternal (right ventricular) heave, and an S4 of right ventricular origin. A diastolic murmur indicative of pulmonic valve regurgitation may be auscultated.

Advanced disease

Patients with advanced disease develop signs of right ventricular failure (cor pulmonale) and may have elevated jugular venous pressure with a prominent V wave, lower-extremity edema, and hepatomegaly. A pulsatile liver develops if tricuspid regurgitation is severe. Ascites may occur but is unusual. The systolic murmur of tricuspid valve regurgitation may be present.

Other

The patient's mental status may be depressed with severe elevations of PaCO2. Patients may have asterixis and papilledema upon examination, and conjunctival and superficial facial blood vessels may be dilated.

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Contributor Information and Disclosures
Author

Jazeela Fayyaz, DO  Pulmonologist, Department of Pulmonology, Unity Hospital

Jazeela Fayyaz, DO is a member of the following medical societies: American College of Physicians and American Thoracic Society

Disclosure: Nothing to disclose.

Coauthor(s)

Klaus-Dieter Lessnau, MD, FCCP  Clinical Associate Professor of Medicine, New York University School of Medicine; Medical Director, Pulmonary Physiology Laboratory; Director of Research in Pulmonary Medicine, Department of Medicine, Section of Pulmonary Medicine, Lenox Hill Hospital

Klaus-Dieter Lessnau, MD, FCCP is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Medical Association, American Thoracic Society, and Society of Critical Care Medicine

Disclosure: Nothing to disclose.

Chief Editor

Zab Mosenifar, MD  Director, Division of Pulmonary and Critical Care Medicine, Director, Women's Guild Pulmonary Disease Institute, Professor and Executive Vice Chair, Department of Medicine, Cedars Sinai Medical Center, University of California, Los Angeles, David Geffen School of Medicine

Zab Mosenifar, MD is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Federation for Medical Research, and American Thoracic Society

Disclosure: Nothing to disclose.

Additional Contributors

Ryland P Byrd Jr, MD Professor, Department of Internal Medicine, Division of Pulmonary Medicine and Critical Care Medicine, Program Director of Pulmonary Diseases and Critical Care Medicine Fellowship, East Tennessee State University, James H Quillen College of Medicine; Medical Director of Respiratory Therapy, James H Quillen Veterans Affairs Medical Center

Ryland P Byrd Jr, MD is a member of the following medical societies: American College of Chest Physicians and American Thoracic Society

Disclosure: Nothing to disclose.

Jackie A Hayes, MD, FCCP Clinical Assistant Professor of Medicine, University of Texas Health Science Center at San Antonio; Chief, Pulmonary and Critical Care Medicine, Department of Medicine, Brooke Army Medical Center

Jackie A. Hayes, MD, FCCP is a member of the following medical societies: Alpha Omega Alpha, American College of Chest Physicians, American College of Physicians, and American Thoracic Society

Disclosure: Nothing to disclose.

Om Prakash Sharma, MD, FRCP, FCCP, DTM&H Professor, Department of Medicine, Division of Pulmonary and Critical Care Medicine, University of Southern California Keck School of Medicine

Om Prakash Sharma, MD, FRCP, FCCP, DTM&H is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Chest Physicians, American College of Physicians, American Federation for Medical Research, American Osler Society, American Thoracic Society, New York Academy of Medicine, and Royal Society of Medicine

Disclosure: Nothing to disclose.

Sat Sharma, MD, FRCPC Professor and Head, Division of Pulmonary Medicine, Department of Internal Medicine, University of Manitoba; Site Director, Respiratory Medicine, St Boniface General Hospital

Sat Sharma, MD, FRCPC, FACP, FCCP, DABSM is a member of the following medical societies: American Academy of Sleep Medicine, American College of Chest Physicians, American College of Physicians-American Society of Internal Medicine, American Thoracic Society, Canadian Medical Association, Royal College of Physicians and Surgeons of Canada, Royal Society of Medicine, Society of Critical Care Medicine, and World Medical Association

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

References

  1. Mokhlesi B, Tulaimat A. Recent advances in obesity hypoventilation syndrome. Chest. Oct 2007;132(4):1322-36. [Medline].

  2. Paschoal IA, Villalba Wde O, Pereira MC. Chronic respiratory failure in patients with neuromuscular diseases: diagnosis and treatment. J Bras Pneumol. Feb 2007;33(1):81-92. [Medline].

  3. Lesser DJ, Ward SL, Kun SS, Keens TG. Congenital hypoventilation syndromes. Semin Respir Crit Care Med. Jun 2009;30(3):339-47. [Medline].

  4. Eckert DJ, Jordan AS, Merchia P, Malhotra A. Central sleep apnea: Pathophysiology and treatment. Chest. Feb 2007;131(2):595-607. [Medline].

  5. Piper AJ, Grunstein RR. Current perspectives on the obesity hypoventilation syndrome. Curr Opin Pulm Med. Nov 2007;13(6):490-6. [Medline].

  6. Mokhlesi B, Tulaimat A, Faibussowitsch I, Wang Y, Evans AT. Obesity hypoventilation syndrome: prevalence and predictors in patients with obstructive sleep apnea. Sleep Breath. Jun 2007;11(2):117-24. [Medline].

  7. Powers MA. The obesity hypoventilation syndrome. Respir Care. Dec 2008;53(12):1723-30. [Medline].

  8. Weitzenblum E, Kessler R, Canuet M, Chaouat A. [Obesity-hypoventilation syndrome]. Rev Mal Respir. Apr 2008;25(4):391-403. [Medline].

  9. [Guideline] Kushida CA, Littner MR, Morgenthaler T, et al. Practice parameters for the indications for polysomnography and related procedures: an update for 2005. Sleep. Apr 1 2005;28(4):499-521. [Medline].

  10. Chen ML, Turkel SB, Jacobson JR, Keens TG. Alcohol use in congenital central hypoventilation syndrome. Pediatr Pulmonol. Mar 2006;41(3):283-5. [Medline].

  11. Ozsancak A, D'Ambrosio C, Hill NS. Nocturnal noninvasive ventilation. Chest. May 2008;133(5):1275-86. [Medline].

  12. [Guideline] Kushida CA, Littner MR, Hirshkowitz M, et al. Practice parameters for the use of continuous and bilevel positive airway pressure devices to treat adult patients with sleep-related breathing disorders. Sleep. Mar 1 2006;29(3):375-80. [Medline].

  13. [Guideline] Global Initiative for Chronic Obstructive Lung Disease (GOLD). Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease. National Guidelines Clearinghouse. 2008.

  14. Banerjee D, Yee BJ, Piper AJ, Zwillich CW, Grunstein RR. Obesity hypoventilation syndrome: hypoxemia during continuous positive airway pressure. Chest. Jun 2007;131(6):1678-84. [Medline].

  15. Wijesinghe M, Williams M, Perrin K, Weatherall M, Beasley R. The effect of supplemental oxygen on hypercapnia in subjects with obesity-associated hypoventilation: a randomized, crossover, clinical study. Chest. May 2011;139(5):1018-24. [Medline].

  16. Lyons HA, Huang CT. Therapeutic use of progesterone in alveolar hypoventilation associated with obesity. Am J Med. Jun 1968;44(6):881-8. [Medline].

  17. Morrison DA, Goldman AL. Oral progesterone treatment in chronic obstructive lung disease: failure of voluntary hyperventilation to predict response. Thorax. Aug 1986;41(8):616-9. [Medline].

  18. Johnson W, DeMaria E. Surgical treatment of obesity. Curr Treat Options Gastroenterol. Apr 2006;9(2):167-74. [Medline].

  19. Taira T, Takeda N, Itoh K, Oikawa A, Hori T. Phrenic nerve stimulation for diaphragm pacing with a spinal cord stimulator: technical note. Surg Neurol. Feb 2003;59(2):128-32; discussion 132. [Medline].

  20. Chen ML, Tablizo MA, Kun S, Keens TG. Diaphragm pacers as a treatment for congenital central hypoventilation syndrome. Expert Rev Med Devices. Sep 2005;2(5):577-85. [Medline].

  21. Chakrabarti B, Angus RM. Ventilatory failure on acute take. Clin Med. Nov-Dec 2005;5(6):630-4. [Medline].

  22. Adnet F, Plaisance P, Borron SW, Levy A, Payen D. Prolonged severe hypercapnia complicating near fatal asthma in a 35-year-old woman. Intensive Care Med. Dec 1998;24(12):1335-8. [Medline].

  23. American Academy of Sleep Medicine Task Force. Sleep-related breathing disorders in adults: recommendations for syndrome definition and measurement techniques in clinical research. The Report of an American Academy of Sleep Medicine Task Force. Sleep. Aug 1 1999;22(5):667-89. [Medline].

  24. BaHammam A, Syed S, Al-Mughairy A. Sleep-related breathing disorders in obese patients presenting with acute respiratory failure. Respir Med. Jun 2005;99(6):718-25. [Medline].

  25. Caruana-Montaldo B, Gleeson K, Zwillich CW. The control of breathing in clinical practice. Chest. Jan 2000;117(1):205-25. [Medline].

  26. Culebras A. Sleep disorders and neuromuscular disease. Semin Neurol. Mar 2005;25(1):33-8. [Medline].

  27. De Troyer A, Borenstein S, Cordier R. Analysis of lung volume restriction in patients with respiratory muscle weakness. Thorax. Aug 1980;35(8):603-10. [Medline].

  28. Hoo GW, Hakimian N, Santiago SM. Hypercapnic respiratory failure in COPD patients: response to therapy. Chest. Jan 2000;117(1):169-77. [Medline].

  29. Kassirer JP, Madias NE. Respiratory acid-base disorders. Hosp Pract. Dec 1980;15(12):57-9, 65-71. [Medline].

  30. Kessler R, Chaouat A, Schinkewitch P, et al. The obesity-hypoventilation syndrome revisited: a prospective study of 34 consecutive cases. Chest. Aug 2001;120(2):369-76. [Medline].

  31. Krachman S, Criner GJ. Hypoventilation syndromes. Clin Chest Med. Mar 1998;19(1):139-55. [Medline].

  32. Langevin B, Petitjean T, Philit F, Robert D. Nocturnal hypoventilation in chronic respiratory failure (CRF) due to neuromuscular disease. Sleep. Jun 15 2000;23 Suppl 4:S204-8. [Medline].

  33. Masa JF, Celli BR, Riesco JA, et al. The obesity hypoventilation syndrome can be treated with noninvasive mechanical ventilation. Chest. Apr 2001;119(4):1102-7. [Medline].

  34. Nixon GM, Brouillette RT. Sleep and breathing in Prader-Willi syndrome. Pediatr Pulmonol. Sep 2002;34(3):209-17. [Medline].

  35. O'Donoghue FJ, Catcheside PG, Ellis EE, et al. Sleep hypoventilation in hypercapnic chronic obstructive pulmonary disease: prevalence and associated factors. Eur Respir J. Jun 2003;21(6):977-84. [Medline].

  36. Olson AL, Zwillich C. The obesity hypoventilation syndrome. Am J Med. Sep 2005;118(9):948-56. [Medline].

  37. Perez de Llano LA, Golpe R, Ortiz Piquer M, Veres Racamonde A, Vázquez Caruncho M, Caballero Muinelos O. Short-term and long-term effects of nasal intermittent positive pressure ventilation in patients with obesity-hypoventilation syndrome. Chest. Aug 2005;128(2):587-94. [Medline].

  38. Perrin C, D'Ambrosio C, White A, Hill NS. Sleep in restrictive and neuromuscular respiratory disorders. Semin Respir Crit Care Med. Feb 2005;26(1):117-30. [Medline].

  39. Plant PK, Owen JL, Elliott MW. One year period prevalence study of respiratory acidosis in acute exacerbations of COPD: implications for the provision of non-invasive ventilation and oxygen administration. Thorax. Jul 2000;55(7):550-4. [Medline].

  40. Poulain M, Doucet M, Major GC, Drapeau V, Series F, Boulet LP. The effect of obesity on chronic respiratory diseases: pathophysiology and therapeutic strategies. CMAJ. Apr 25 2006;174(9):1293-9. [Medline].

  41. Schlichtig R, Grogono AW, Severinghaus JW. Current status of acid-base quantitation in physiology and medicine. Anesth Clin North Am. 1998;16 (1):211-33.

  42. Tuggey JM, Elliott MW. Titration of non-invasive positive pressure ventilation in chronic respiratory failure. Respir Med. Jul 2006;100(7):1262-9. [Medline].

  43. Ward S, Chatwin M, Heather S, Simonds AK. Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax. Dec 2005;60(12):1019-24. [Medline].

  44. Weitzenblum E, Chaouat A. Sleep and chronic obstructive pulmonary disease. Sleep Med Rev. Aug 2004;8(4):281-94. [Medline].

 
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