A rare disorder of unknown cause that leads to inadequate breathing despite normal physiologic make-up.
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.
Signs and tests
pulmonary function testsblood gaseschest 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.