Primary alveolar hypoventilation is a rare disorder of unknown cause in which a person does not take enough breaths per minute. The lungs and airways are normal.
Causes, incidence, and risk factors
Normally, when the oxygen levels in the blood are low or the carbon dioxide levels are high, there is a signal from the brain to breathe more deeply or more quickly. In people with primary alveolar hypoventilation, this change in breathing does not happen.
The cause of primary alveolar hypoventilation is unknown. Some patients have a specific genetic defect.
The disease mainly affects men 20 to 50 years old, although it may also occur in children.
Symptoms are usually worse during sleep, and periods of
Bluish coloration of the skincaused by lack of oxygen
- Daytime drowsiness
- Swelling of the ankles
- Waking up from sleep unrested
- Waking up many times at night
Persons with this disease are extremely sensitive to even small doses of sedatives or narcotics, which can make their already inadequate breathing much worse.
Signs 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
- Hematocrit and hemoglobin blood tests
Lung function tests
- Overnight oxygen level measurements (oximetry)
- Serum bicarbonate
- Sleep study (
Medications that stimulate the
Response to treatment varies.
The low blood oxygen level can cause high blood pressure in the lung blood vessels. This can lead to
Calling your health care provider
Call for an appointment with your health care provider if symptoms of this disorder develop. Seek urgent medical care if bluish skin (
There is no known prevention. Patients should avoid using sleeping medications or other medications that may cause drowsiness.