Synonyms and Keywords: Congenital central hypoventilation syndrome; CCHS; Primary alveolar hypoventilation

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.

• Symptoms are usually worse during sleep, and periods of apnea (episodes of stopped breathing) are usually present.

• Often patients themselves do not complain of shortness of breath during the day.

• Symptoms include:

• Bluish coloration of the skin caused by lack of oxygen
• Daytime drowsiness
• Fatigue
• Lethargy
• Morning headaches
• 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.

• 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 young boys.

• Call for an appointment with your health care provider if symptoms of this disorder develop.

• Seek urgent medical care if bluish skin (cyanosis) occurs.

• 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 be helpful in a few patients, but may cause worse night symptoms in others.

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Response to treatment varies.

The low blood oxygen level can cause high blood pressure in the lung blood vessels. This can lead to cor pulmonale (right-sided heart failure).

• There is no known prevention.

• Patients should avoid using sleeping medications or other medications that may cause drowsiness.

http://www.nlm.nih.gov/medlineplus/ency/article/000078.htm