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Chronic Granulomatous Disease (CGD)

Overview

Chronic granulomatous disease (CGD) is a genetic disorder in which white blood cells called phagocytes are unable to kill certain types of bacteria and fungi. People with CGD are highly susceptible to frequent and sometimes life-threatening bacterial and fungal infections.
People with chronic granulomatous disease may develop infections in their lungs, skin, lymph nodes, liver, stomach and intestines, or other areas. They may also develop clusters of white blood cells in infected areas. Most people are diagnosed with CGD during childhood, but some people may not be diagnosed until adulthood.

Symptoms

People with chronic granulomatous disease experience serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay.
It's also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Signs and symptoms associated with infections include:
  • Fever. 
  • Chest pain when inhaling or exhaling.
  • Swollen and sore lymph glands.
  • A persistent runny nose.
  • Skin irritation that may include a rash, swelling or redness.
  • Swelling and redness in your mouth.
  • Gastrointestinal problems that may include vomiting, diarrhea, stomach pain, bloody stool or a painful pocket of pus near the anus
When to see a doctor


If you think you or your child has a type of fungal pneumonia from being around dead leaves, mulch or hay, get medical care right away. If you or your child has frequent infections and the signs and symptoms listed above, talk to your doctor.

Causes

A mutation in one of five genes can cause CGD. People with CGD inherit the gene mutation from a parent. The genes normally produce proteins that form an enzyme that helps your immune system work properly. The enzyme is active in white blood cells (phagocytes) that catch and destroy fungi and bacteria to protect you from infections. The enzyme is also active in immune cells that help your body heal.
When there are mutations to one of these genes, the protective proteins are not produced, or they're produced but they don't function properly.
Some people with CGD don't have one of these gene mutations. In these cases, doctors don't know what causes the condition.

Risk factors

Boys are more likely to have CGD.
Diagnosis
To diagnose CGD, your doctor will review your family and medical history and conduct a physical exam. Your doctor may order several tests to diagnose CGD, including:
Neutrophil function tests. Your doctor may conduct a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell (neutrophil) in your blood is functioning. Doctors usually use this test to diagnose CGD.
Genetic testing. Your doctor may request a genetic test to confirm the presence of a specific genetic mutation that results in chronic granulomatous disease.
Prenatal testing. Doctors may conduct prenatal testing to diagnose CGD if one of your children already has been diagnosed with CGD

What disease causes granulomas?


Chronic granulomatous (gran-u-LOM-uh-tus) disease (CGD) is an inherited disorder that occurs when a type of white blood cell (phagocyte) that usually helps your body fight infections doesn't work properly. As a result, the phagocytes can't protect your body from bacterial and fungal infections.

What is granulomatous disease in the lungs?


What does that mean? A granuloma is a small area of inflammation. Granulomas are often found incidentally on an X-ray or other imaging test done for a different reason. Typically, granulomas are noncancerous (benign). Granulomas frequently occur in the lungs, but can occur in other parts of the body and head as well.
How common is chronic granulomatous disease?
Symptoms from CGD usually first occur during infancy or childhood, but sometimes may be delayed until the early teens. In a few cases, the first symptoms have been known to occur in adulthood. It is estimated that about four to five in every million people worldwide has chronic granulomatous disease.CGD occurs more often in males than in females.
How serious is CGD?
People with CGD can experience: Serious, sudden, and frequent infections in many areas of the body, including the lungs, liver, or bones. Skin infections that cause boils, blisters, and sores that don't go away. Bowel problems from inflammation in the intestines, such as diarrhea, weight loss, and abdominal pain.

Can you live with a granuloma?
People with CGD can be generally healthy until they become infected with one of the germs that those defective cells can't fight. The severity of these infections can often lead to prolonged hospitalizations for treatment.

What are the treatments for chronic granulomatous disease (CGD)?
Doctors use several different drugs to manage the symptoms of CGD:
Antibiotics: Antibacterial drugs are used both for prophylaxis (prevention) and for treatment of acute infections
Antifungals: Antifungal drugs such as itraconazole may be used both for prophylaxis and for treatment of acute infections
Corticosteroids: These may be used to treat inflammatory manifestations, but are used carefully, as broad immunosuppressants may also lead to infections.
Interferon-gamma injections: A synthetic (human-made) version of a substance produced by the body’s immune system may decrease the severity and frequency of infections. (This treatment may be used less often due to its expense, side effects and effectiveness as compared to prophylaxis itraconazole.)
For some people, doctors may use a stem cell transplant to treat or, in some cases, cure CGD. During a stem cell transplant, healthy stem cells from a donor replace the faulty neutrophils in the white blood cells so they can fight infections. Because this procedure is complicated and has risks, doctors look at a person’s age, health and other factors when considering it.

What questions should I ask my doctor?
If you or your child has CGD, you may want to ask your doctor:
  • What caused CGD to develop?
  • What do I need to know about managing CGD?
  • Should my family or I consider genetic testing?

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