A QUICK RESOURCE FOR PATIENTS TO DISCUSS WITH THEIR MEDICAL PROVIDER
Chronic Granulomatous Disease (CGD) is a rare, inherited genetic disorder that prevents the immune system from fighting specific types of bacteria or fungus infections. In CGD, white blood cells (phagocytes or neutrophils) are unable to make hydrogen peroxide to kill certain types of bacteria and fungi. Patients with CGD are highly prone to infections with these organisms in the lungs (pneumonias), lymph nodes, liver or bones. These infections can be life-threatening. CGD can also cause excessive inflammation and autoimmune problems, particularly inflammatory bowel disease.
The immune system of a patient with CGD does not work properly, leaving the body prone to bacterial and fungal infections, such as staphylococcus aureus, serratia marcescens, burkholderia cepacia, nocardia species, and organisms from the aspergillus species. However, response to viral infections is normal in patients with CGD. CGD may involve any organ system or tissue of the body, but infections are usually found in the skin, lungs, liver, lymph nodes, gastrointestinal tract, bones, and occasionally the brain. Wounds may also have trouble healing and an inflammatory condition known as granuloma may develop. Pneumonia caused by a fungus such as aspergillus is a red flag for CGD. Infection b y normally non-pathogenic bacteria is also a red flag for CGD. A person with CGD will often show signs of an immunodeficiency at a very young age. Symptoms include, but are not limited to:
CGD is usually diagnosed in childhood. If there is a family history of CGD or a child presents symptoms, physicians should test for CGD by ordering one of the two diagnostic tests below, which can determine X-linked, autosomal, and recessive forms of CGD:
In addition, genetic testing can determine the specific gene mutation and is useful to establish the genetic inheritance pattern and aid in family counseling.
While each patient with CGD is different due to individual levels of NADPH-oxidase activity and form of CGD (as well as other unrelated health or environmental issues) it is recommended that patients be seen and, if necessary, managed proactively by a team of qualified specialists/physicians, who work in concert with a primary care physician. These can include (but are not limited to):
Avoiding infection in patients with CGD involves a combination strategy that typically includes prophylactic antibacterial agents, antifungal agents, and immunomodulation via interferon-gamma (IFN-γ) therapy (CGD prophylaxis) and avoidance of exposure to bacteria and fungi. Bacteria and fungi exposures are prevalent in daily life, but there are measures one can take to reduce exposure risk. People with CGD should avoid dirt, construction areas, caves, grass cuttings, decaying leaves, dust, garden mulch, fresh water (lakes, ponds, rivers), jacuzzis/hot tubs, and potting soil.
No course of action, whether CGD treatment/prophylaxis or curative option, is without risks. It is important to encourage patients with CGD and their families to educate themselves in order to select the path that is right for them.
Dr. Harry Malech of the National Institutes for Health discusses Chronic granulomatous disease (CGD) - what it is and how it doesn’t only affect males.
CGD Association of America
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