Chronic granulomatous disease- Symptoms, diagnosis, and treatments

An inherited immunodeficiency, the chronic granulomatous disease is a rare medical condition that affects specific white blood corpuscles. In this condition, the immune system gets affected and does not function properly. This leads to fungal and bacterial infections, which are the result of chronic inflammation.

In most of the cases, it is during early childhood or infancy that the features of the condition are developed in the body. The mutations or changes in any of the five genes can cause chronic granulomatous disease.

Signs and symptoms
People with chronic granulomatous disease may experience some of the medical conditions such as skin infections, pneumonia, lung infections, gastrointestinal inflammation, lymph node infections, and other types of infections. Moreover, some people may experience the development of clusters of white blood cells in granulomas, referred to as infected areas. In some of the cases, the chronic granulomatous disease is diagnosed during the childhood itself, but in other cases, it is only in adulthood that the condition gets diagnosed.

Chronic granulomatous disease may affect any tissues or organs in the body, but the parts most infections are found in are:

  • Skin
  • Bones
  • Brain (occasionally)

One of the other signs of this condition is that the body has trouble in healing wounds. Moreover, pneumonia is one of the other signs of the chronic granulomatous disease and one should get tested soon for immediate treatment.

Diagnosis
The diagnosis of this medical condition is based on various characteristics of the symptoms observed in a patient. From specific blood tests to flow cytometry, there are a series of diagnosis that follows.

Treatments
One of the best ways to prevent chronic granulomatous disease is prevention. The treatments vary from antifungal and antibiotic medications along with continuous therapy. If one can prevent the infection from occurring, the disease can be treated. Moreover, there are special antibiotics that are used for treating chronic granulomatous disease that help the infections to stay at bay.

There are numerous ways of managing the disease. Salt water or fresh water may contain organisms that can trigger the infection of chronic granulomatous disease. For people with this condition, it is best to avoid swimming pools where there is chlorinated water.

In case of an infection, there are some antibiotic treatments that are prescribed by the doctor. However, it takes a longer time for the prescribed medications to be effective.

Another popular and effective treatment option that is suitable for some of the patients includes a bone marrow transplant. However, a bone marrow transplantation is considered to be complex. The selection of the donor and transplant candidate must be carefully done in order to lower the risks associated with the transplant. That is why both the benefits and risks of the procedure need to be carefully weighed.

It has been observed that the only cure for the chronic granulomatous disease is allogeneic hematopoietic stem cell transplantation.

Therapeutic treatment options
There are some therapeutic treatment options for chronic granulomatous disease. Some of these treatment options include antifungal medications, prophylactic antibiotics, aggressive or acute management of the condition, and interferon-gamma injections. In recent times, researchers are exploring and examining newer methods of treatments such as gene therapy.