Overview
Chronic granulomatous disease (CGD) is an inherited disorder where a type of white blood cell called phagocytes does not function properly. Phagocytes are responsible for helping the body fight infections. Due to this dysfunction, individuals with CGD are vulnerable to bacterial and fungal infections. These infections can affect various parts of the body, including the lungs, skin, lymph nodes, liver, stomach, and intestines. CGD is usually diagnosed during childhood, but some individuals may not be diagnosed until adulthood. Symptoms of CGD include recurrent bacterial or fungal infections, which can lead to lung infections like pneumonia, skin infections, liver, stomach, and intestinal infections, and infections in other parts of the body. Symptoms may include fever, chest pain during breathing, swollen and sore lymph glands, an ongoing runny nose, skin irritation, swelling and redness in the mouth, gastrointestinal problems like vomiting, diarrhea, stomach pain, bloody stool, and painful pockets of pus near the anus.
Understanding the disease
Symptoms
The symptoms of chronic granulomatous disease (CGD) include experiencing serious bacterial or fungal infection every few years, common infections in the lungs such as pneumonia, infections of the skin, liver, stomach and intestines, brain, and eyes, and associated symptoms such as fever, chest pain when inhaling or exhaling, swollen and sore lymph glands, an ongoing runny nose, skin irritation, swelling and redness in the mouth, gastrointestinal problems like vomiting, diarrhea, stomach pain, bloody stool, and a painful pocket of pus near the anus.
Risk Factors
The risk factors for developing chronic granulomatous disease (CGD) include:
- Inherited disorder: CGD is an inherited disorder that typically occurs when a type of white blood cell called a phagocyte does not function properly.
- Family history: A personal or family history of CGD increases the risk of developing the condition.
- Infections: Exposure to bacterial and fungal infections can increase the risk of developing CGD. for other risk factors or complications related to CGD.
Development
In chronic granulomatous disease (CGD), a type of white blood cell called a phagocyte doesn't function properly. Phagocytes are responsible for fighting infections in the body. As a result, people with CGD are prone to bacterial and fungal infections. These infections can affect various parts of the body, including the lungs, skin, lymph nodes, liver, stomach and intestines, and other areas. Clusters of white blood cells may form in infected areas. Most people are diagnosed with CGD during childhood, but some may not be diagnosed until adulthood.
Assessment and Diagnosis
Triage
You should see a doctor if chronic granulomatous disease (CGD) is suspected. Early diagnosis is important for effective treatment, and the symptoms associated with CGD can be indicative of serious infections or organ damage. Some signs and symptoms that may warrant a visit to the doctor include:
- Persistent or recurrent infections that don't respond to usual treatment.
- Infections in the lungs, skin, lymph nodes, liver, stomach, or intestines.
- Clusters of white blood cells in infected areas.
- Pus-like drainage from the nose, stuffiness, sinus infections, and nosebleeds.
- Coughing, sometimes with bloody phlegm.
- Shortness of breath or wheezing.
- Fever, fatigue, joint pain, numbness in limbs, fingers, or toes, weight loss, blood in urine, skin sores, bruising, rashes, eye redness, burning, or pain, and hearing problems. If you or your child are experiencing any of these symptoms, it's important to consult a doctor for proper evaluation, diagnosis, and treatment.
Diagnosis
To diagnose chronic granulomatous disease (CGD), a healthcare provider will typically review the family and medical history, conduct a physical exam, and order several tests. These tests may include neutrophil function tests, such as a dihydrorhodamine 123 (DHR) test, to evaluate the functioning of neutrophils. Genetic testing is also performed to confirm the presence of the specific genetic alteration causing CGD. In some cases, prenatal testing may be done if one of your children has already been diagnosed with CGD.
Management and Treatment
Complications
Chronic granulomatous disease (CGD) can lead to various complications due to the improper functioning of phagocytes, which results in recurring bacterial and fungal infections. Some potential complications include:
- Infections in the lungs, skin, lymph nodes, liver, stomach and intestines, or other areas.
- Clusters of white blood cells in infected areas.
- Infections of the brain and eyes.
- Complications involving the respiratory system, such as pneumonia.
- Gastrointestinal problems, including vomiting, diarrhea, stomach pain, and bloody stool.
- Painful pocket of pus near the anus.
- Inflamed, narrowed blood vessels and harmful inflammatory tissue masses (granulomas).
- Skin scarring.
- Kidney damage.
- Weakened cartilage leading to a loss of height in the bridge of the nose (saddling).
- Blood clot formation in deep veins, usually in the legs.
- Mild liver inflammation (hepatitis).
- Yellowing of the skin and whites of the eyes (jaundice).
- Other less common complications, such as anemia, thrombocytopenia, heart problems, complications involving the nervous system, swollen tonsils, and meningitis. It is important to note that these complications may not occur in every case of chronic granulomatous disease and can vary in severity and frequency among affected individuals.
Treatment
The exact treatments for chronic granulomatous disease (CGD) depend on the severity and location of the infection. However, general treatments for CGD may include:
- Antibiotics or antifungal medications: These medications help fight the underlying infections caused by bacteria or fungi.
- Supportive care: This includes managing symptoms and complications associated with the infection, such as providing oxygen support for breathing difficulties or administering intravenous fluids for dehydration.
- Preventive measures: Individuals with CGD need to be careful to avoid potential sources of infection. This may involve regular use of prophylactic antibiotics or avoiding certain environments, such as farms or areas with exposed soil.
- Stem cell transplant: In some cases, a stem cell transplant may be considered as a potential curative treatment for CGD. However, this option carries significant risks and is typically reserved for severe cases or when other treatments have failed. It is important to consult a healthcare professional for personalized treatment recommendations based on the individual's specific case and severity of the condition.