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 people 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 there is no shortness of breath during the day.
- Bluish coloration of the skin caused by lack of oxygen (cyanosis)
- Daytime drowsiness
- Morning headaches
- Swelling of the ankles
- Waking up from sleep unrested
- Waking up many times at night
People 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 and ask about symptoms.
Tests will be done to rule out other causes. For example, muscular dystrophy can make the rib muscles weak, and chronic obstructive pulmonary disease (COPD) damages the lung tissue itself. A small stroke can affect the breathing center in the brain.
Tests that may be done include:
- Measuring levels of oxygen and carbon dioxide in the blood (arterial blood gases)
- Chest x-ray or CT scan
- Hematocrit and hemoglobin blood tests to check oxygen carrying ability of red blood cells
- Lung function tests
- Overnight oxygen level measurements (oximetry)
- Sleep study (polysomnography)
Medicines 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 people. Oxygen therapy may help in a few people, 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
Contact your provider if you have symptoms of this disorder. Seek medical care right away if bluish skin occurs.
There is no known prevention. You should avoid using sleep medicines or other drugs that can cause drowsiness.
Ondine's curse; Ventilatory failure; Diminished hypoxic ventilator drive; Diminished hypercapnic ventilator drive
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Malhotra A, Powell F. Disorders of ventilatory control. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 80.
Weinberger SE, Cockrill BA, Mandel J. Disorders of ventilatory control. In: Weinberger SE, Cockrill BA, Mandel J, eds. Principles of Pulmonary Medicine. 7th ed. Philadelphia, PA: Elsevier; 2019:chap 18.
Review Date 7/31/2022
Updated by: Denis Hadjiliadis, MD, MHS, Paul F. Harron Jr. Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.