Primary Alveolar Hypoventilation

Introduction

Hypoventilation is a condition that occurs when there is an insufficient exchange of gases. This can be brought on by shallow or sluggish breathing, restricting the body from receiving oxygen and contributing to increased blood-containing carbon dioxide. Hypoventilation can also be caused by a lack of oxygen in the blood.

What Is Primary Alveolar Hypoventilation?

Primary alveolar hypoventilation is an uncommon condition brought on by poor ventilation of the alveoli (where gaseous exchange happens) and does not involve a neurological disorder. Additionally, the airways, lungs, and chest all function normally. The patients experience it more frequently when they are sleeping.

What Is Congenital Central Alveolar Hypoventilation Syndrome?

Primary alveolar hypoventilation is a condition that occurs during infancy and has an impact on normal breathing. A person affected by this condition would take shallow breaths most frequently while sleeping, leading to a deficiency in oxygen and a rise in carbon dioxide in the bloodstream. In this condition, dysfunction in the neurological system results in inappropriate responses while the state is present.

What Are the Signs and Symptoms of Primary Alveolar Hypoventilation?

There would be instances of trouble breathing while sleeping. The complaints might include the following:

• Cyanosis: The patient's skin may present a bluish-purple color, which can be seen most clearly in areas of thin skin such as the lips, mouth, earlobes, and fingernails. The blue discoloration indicates a decrease in the amount of oxygen bound to red blood cells in the bloodstream.

• Drowsiness: The patient typically experiences morning drowsiness due to their condition. The individual suffering from this ailment would feel abnormally tired or sleepy throughout the daytime, leading to forgetfulness and falling asleep at the wrong times.

• Fatigue: It is a state of fatigue or exhaustion brought on by extended effort for either mental or physical causes.

• Headache: Lack of sleep causes a reduction in quick eye movement, which in turn creates a rapid headache; as a consequence, an excessive amount of protein is produced in the body, leading to chronic headaches.

• Disturbed Sleep: Due to improper breathing, the patient would have shallow breathing when resting, leading to a lack of oxygen in the blood and an increase in carbon dioxide levels. This would result in frequent awakenings during sleep for the patient.

How Is Primary Alveolar Hypoventilation Diagnosed?

The following are the methods used to diagnose primary alveolar hypoventilation:

• Arterial Blood Gas Testing: A blood sample is drawn from an artery to carry out the test. It is designed to determine the concentrations of carbon dioxide and oxygen in the blood.

• Chest X-ray: An X-ray of the chest is taken to determine the cause of hypoventilation, which could be due to inflation of the lung capacity, flattening of the diaphragm, or even examination of the hemidiaphragm.

• Computed Tomography Scan: Using computed tomography (CT) could help determine whether or not there is damage to the lungs or the presence of conditions affecting the lungs, such as unclear infiltrate, tiny pneumothorax, and pleural effusion. Even the diagnosis of pulmonary embolism can be accomplished with its assistance.

• Blood Test: The blood test is performed to diagnose low oxygen levels in the blood due to lung illness, which is connected with the red blood cell count.

• Polysomnography: The sleep problem is evaluated with a diagnostic test. As it determines the blood oxygen level, brain waves, breathing rate and pattern, body positioning, eye movement, heart rate and rhythms, sleep stage, odd movement, and behavior, it is a therapeutic method for analyzing the disorder and determining the appropriate treatment for the condition. In addition, this diagnostic test is utilized to determine whether or not a patient is suffering from SRBD (Sleep-related breathing disorder) since sleep has been demonstrated to influence breathing and, in turn, respiratory dysrhythmias (abnormal rhythm). Once the underlying cause has been identified, the degree of this sleep disturbance can be decreased.

• Pulmonary Function Test: This test will determine both the vital capacity of the lungs and the forced expiratory volume.

What Are the Treatment Measures?

The signs and symptoms of the underlying condition would determine the diagnosis and therapy of hypoventilation. The treatment of SRBDs has two main goals: to improve the patient's quality of life by restoring sleep patterns and to prevent potentially fatal situations.

• Eliminate the Risk: As in primary alveolar hypoventilation, the condition can be exacerbated by sedative medicines and other habits like alcohol, as they have a depressive effect on breathing. Insufficiency in sleep and sleeping in a supine position are two more contributing factors.

• Medications: The use of aggressive drugs for the condition has been linked to an increased risk of heart problems. In contrast, selective pharmaceuticals like Serotonin have been linked to minor advantages in youngsters.

• Ventilation: As a treatment for the ailment, assisted ventilation is necessary. The therapy, which would involve non-invasive ventilatory techniques like positive pressure ventilation, patients with diagnosed symptoms, and the associated laboratory data, should be provided with immediate intervention to prevent complications.

• Non-invasive Positive Pressure Ventilation: It is an alternate management strategy in which air and oxygen are supplied to the lungs. It can be provided through different modalities, such as in the ICU (intensive care unit) and portable devices. In addition, because endotracheal intubation and profound sedation are not prerequisites for the intervention, the non-invasive method offers more patient convenience.

• Oxygen Therapy: Inhaling pure oxygen in a pressurized environment is one of the components of hyperbaric oxygen therapy. In this setting, the air pressure is elevated to a greater degree than in a standard room. As a result, the lungs would be able to collect more oxygen than that feasible by breathing in pure oxygen, increasing the quantity of oxygen-carrying capacity that would ultimately result in a rise in the oxygen level in the tissue.

• Diaphragm Pacing: Diaphragm pacing is a surgical procedure that helps patients lead regular lives. It is most usually utilized in those who have had previous unsuccessful attempts at treatment. During pacing, the electrode is surgically inserted into the phrenic nerve to connect it to the subcutaneous receiver. It consists of an external transmitter and antenna powered by a battery and is put over the skin. This causes the phrenic nerve to be stimulated by the electric current, which causes the muscles in the chest to contract. As a result, the transmitter generates the tidal volume necessary to produce sufficient levels of oxygenation and ventilation.

What Are the Complications of This Condition?

Insufficient oxygen in the blood can cause a rise in pulmonary pressure, which can cause the failure of the right side of the heart (cor pulmonale).

Conclusion

Primary alveolar hypoventilation is characterized by hypoxemia and hypercapnia due to a decrease in alveolar ventilation but does not include any other concomitant disorders. It is a respiratory disease that is developed owing to shallow breathing. Additionally, the abnormality of both chemical and automatic control of ventilation is a contributing factor in the development of this condition. In addition to oxygen therapy, ventilation and surgical intervention are done in more complex cases by surgically installing the diaphragm pacemaker. Non-invasive positive pressure ventilation is the technique of management utilized most frequently for this condition. This is a relatively easy problem and can be solved by contemporary intervention.