Chronic Granulomatous Disease

What is Chronic Granulomatous Disease?

Chronic granulomatous disease is a rare disorder that causes some of the body’s white blood cells to function improperly. The disease is inherited due to genetic traits, so naturally it shows up mainly during childhood but occasionally only arises in adulthood.

Due to poorly functioning white blood cells, the patient experiences a repressed immune system that can make otherwise mild bacterial and fungal infections become life-threatening.

What are the Symptoms of Chronic Granulomatous Disease?

Symptoms vary and can be mild and hard to notice at first.

Symptoms include

  • Eczema patches that are red and chronic
  • Abscesses filled with pus developing anywhere on the body
  • Boils and similar skin growths
  • Constant illnesses like bacterial infections and fungal skin infections
  • Pneumonia or other serious infections that return every few years
  • Sores and blisters on the face that are particularly swollen and red
  • Swollen lymph nodes around the base of the neck and head
  • Reoccurring bouts of loose stools

Chronic Granulomatous Disease Causes

Chronic granulomatous disease is caused by specific immune cells in the patient that are not able to kill certain types of fungi and bacteria. Because the immune system is not working properly, it leaves the patient open to frequent infections from bacteria and fungi. About half of all cases of chronic granulomatous disease are genetic. It is passed from parents to children as a recessive, sex-linked trait. It is caused by a defective gene on the X chromosome. That causes it to be more likely to appear in boys. For a girl to get this disease, she must have it passed to her from both parents. If a child has one or more family members with chronic infections, this is a CGD risk factor. Siblings of children with CGD have a 25% chance of developing it themselves.

How is Chronic Granulomatous Disease Treated?

Without treatment, this condition can become life-threatening.

Treatment includes

Controlling infectious exposure, treating early cases of infections, and supporting the immune system as much as possible.

Patients must avoid swimming pools, hot tubs, certain gardening activities, and other activities that expose them to pathogens. Any infections are diagnosed promptly and treated with certain classes of antibiotics. Allowing an infection to set in, especially in the lungs, can make it impossible to treat.

Seeing a doctor routinely is the best way to manage chronic granulomatous disease since a bone marrow transplant may become necessary if the disease reaches a severe state.

Chronic Granulomatous Disease Prevention

This condition is encoded into the genes and begins in the womb. There is currently no way to prevent CGD from occurring. However, there are several ways to prevent the infections that are caused by this condition. The aggressive use of a variety of antibiotics is used to prevent the bacterial and fungal infections from becoming serious health risks to these patients and to extend their life expectancy. Some CGD patients are given preventive antibiotics regularly to prevent infections from developing. Bacterial infections can be kept at bay with the daily use of the antibiotic trimethoprim-sulfamethoxazole. Fungal infections can be prevented by using the antibiotic itraconazole.

The prevention of serious infections will be more effective if the patient is diagnosed with CGD at a young age. Children with parents who get frequent infections should be tested as young children. Getting genetic testing for young children can show whether the disease has been inherited and daily antibiotics should be taken to allow them to stay healthier and live longer.