Primary alveolar hypoventilation
Primary alveolar hypoventilation is a rare disorder in which a person does not take enough breaths per minute. The lungs and airways are normal.
Normally, when the oxygen level in the blood is low or the carbon dioxide level is high, there is a signal from the brain to breathe more deeply or quickly. In people with primary alveolar hypoventilation, this change in breathing does not happen.
The cause of this condition is unknown. Some patients have a specific genetic defect.
The disease mainly affects men 20 to 50 years old. It may also occur in children.
Symptoms are usually worse during sleep. Episodes of stopped breathing (apnea) often occur while sleeping. Often patients do not complain of shortness of breath during the day.
- Bluish coloration of the skin caused by lack of oxygen
- Daytime drowsiness
- Morning headaches
- Swelling of the ankles
- Waking up from sleep unrested
- Waking up many times at night
Persons with this disease are very sensitive to even small doses of sedatives or narcotics. These drugs can make their breathing problem much worse.
Exams and Tests
The health care provider will perform a physical exam. Tests will be done to rule out other causes. For example, muscular dystrophy can make the rib muscles weak, and emphysema damages the lung tissue itself. A small stroke can affect the breathing center in the brain.
Tests that may be done include:
- Blood gases
- Chest x-ray
- Hematocrit and hemoglobin blood tests
- Lung function tests
- Overnight oxygen level measurements (oximetry)
- Serum bicarbonate
- Sleep study (polysomnography)
Medications that stimulate the respiratory system may be used but do not always work. Mechanical devices that assist breathing, particularly at night, may be helpful in some patients. Oxygen therapy may help in a few patients, but may worsen night symptoms in others.
Response to treatment varies.
Low blood oxygen level can cause high blood pressure in the lung blood vessels. This can lead to cor pulmonale (right-sided heart failure).
When to Contact a Medical Professional
Call for an appointment with your doctor if symptoms of this disorder develop. Seek urgent medical care if bluish skin (cyanosis) occurs.
There is no known prevention. Patients should avoid using sleep medicines or other drugs that can cause drowsiness.
Duffin J, Phillipson EA. Hypoventilation and hyperventilation syndromes. In: Mason RJ, Broaddus CV, Martin TR, et al. Murray & Nadel's Textbook of Respiratory Medicine. 5th ed. Philadelphia, PA: Saunders Elsevier; 2010:chap 78.
Malhotra A. Disorders of ventilatory control. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 86.
Reviewed By: Denis Hadjiliadis, MD, Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.