DiGeorge Syndrome (DGS)
DiGeorge Syndrome (DGS) is a genetic disorder. It is a form of primary immunodeficiency due to decreased T-cells resulting in an increased susceptibility to infection. In addition to the immune system being affected, DGS can result in altered facial features, thyroid abnormalities and cardiac issues. It impacts each person differently and is typically diagnosed at birth or shortly thereafter.
Symptoms of DGS
Symptoms as stated above include frequent infections. Facial characteristics can include low set ears, small chin, hooded eyelids and possibly a cleft palate, which can result in nasal-sounding speech. Frequently there are learning difficulties and other psychiatric disorders.
If DiGeorge Syndrome (DGS) is suspected based on the observation of multiple symptoms, there will be a genetic test which along with other tests and laboratory results can confirm diagnosis. These include T-cell count, computerized tomography (CT) scan of the thyroid, and an echocardiogram to look at the heart.
Treatment of DGS
Because DiGeorge Syndrome (DGS) affects each person differently, the treatment plan should be tailored to the individual and how they are presenting. Symptoms can be mild or severe and must be addressed accordingly. For example, depending on the T-cells, treatment may include observation and treating infections as they arise, or in severe cases, may be treated with a bone marrow transplant. Immune globulin replacement therapy may or may not be part of the treatment plan. Immune globulin is extracted from a large pool of human plasma and contains all the important antibodies present in the normal population. Immune globulin therapy can be administered into the blood stream intravenously (IVIG) or under the skin subcutaneously (SCIG).
The information provided on this website is not medical advice, nor is it intended to be a substitute for medical advice, diagnosis, and treatment. Always seek the advice of a physician or other qualified health provider with questions concerning a medical condition. Never disregard professional medical advice, or delay seeking it based on information provided on this website.