Primary alveolar hypoventilation

Primary alveolar hypoventilation

Definition:

A rare disorder of unknown cause that leads to inadequate breathing despite normal physiologic make-up.

Alternative Names:

Ondine's curse

Causes, incidence, and risk factors:

The cause of this disease is unknown. Current research is looking at how the brain of these patients may be less responsive to carbon dioxide.

The condition is usually worse during sleep, and periods of apnea (cessation of breathing) are usually present. Patients with this disease are extremely sensitive to even small doses of sedatives or narcotics, which can acutely exacerbate their hypoventilation. The disease primarily affects men 20 to 50 years old; it can also be present in male children.

This condition is commonly seen in those with obesity hypoventilation syndrome.

Symptoms:

lethargy
fatigue
morning headache
daytime somnolence
swelling of the ankles
bluish coloration of the skin caused by lack of oxygen
awakening from sleep unrested
awakening many times at night

Signs and tests:

pulmonary function tests
blood gases
chest X-ray to rule out other diseases
overnight oximetry (a test to measure oxygen levels during the night)
Sleep study (polysomnography)

This disease may also alter the results of the following tests:

serum bicarbonate
hematocrit

Treatment:

Medications that stimulate the respiratory system may be used. Augmentation of breathing, particularly at night, with mechanical devices may be helpful in some patients. Oxygen therapy may be helpful in some patients, but may produce worse night symptoms in others.

Expectations (prognosis):

Response to treatment varies.

Complications:

cor pulmonale with right-sided heart failure

Calling your health care provider:

Call for an appointment with your health care provider if symptoms of this disorder develop. Cyanosis (bluish skin) may indicate an urgent need for treatment.

Prevention:

There is no known prevention.

Review Date: 2/1/2001
Reviewed By: Darrell N. Kotton, M.D., Boston University Pulmonary Center, Boston University Medical Center, Boston, MA. Review provided by VeriMed Healthcare Network.

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