Agammaglobulinemia, also known as X-Linked agammaglobulinemia, Bruton’s agammaglobulinemia and XLA, is a genetic deficiency where the body produces very low levels of the protective proteins called immunoglobulins. At times, the body produces none of these proteins at all. This disorder is also referred to as “hypogammaglobulineia” because of the low levels of globulins that characterize it. These protective antibodies are an important part of the defense against bacteria and viruses. Additionally, these proteins help the body remember infections that it has already fought off and keep them from recurring. When properly treated, patients with XLA lead regular lives with no need for isolation or limited levels of activity. A fully active lifestyle is not only expected, but encouraged.
Diagnosis of XLA
The diagnosis of XLA begins with a review of a family’s medical history. Since this deficiency is passed through genes, chances are that symptoms were present in ancestors. This screening is followed by blood testing to look for the quantity of serum immunoglobulins. In patients with XLA, this level is significantly low or absent. The condition affects males on an almost exclusive basis, though females are known carriers. The actual diagnosis of XLA will almost always occur during infancy or early childhood when it becomes apparent that the patient has a recurrence of infections.
Symptoms and Common Infections
The recurrence of common infections during the first four years of the patient’s life is a common indicator of XLA. The most common infections include bronchitis, conjunctivitis, pneumonia, sinusitis and other skin and respiratory infections.
How Can You Treat XLA?
XLA can be treated with a couple of different options. The first, immunoglobulin therapy, involves the regular injections of antibodies from donor blood plasma. The goal of this treatment is to boost the patient’s immune system allowing the individual to fight off infections before they occur. The second most popular treatment, infection management, involves the treatment of recurring infections with antibiotic medication. Other medications may also be prescribed for the relief of congestion, fever or pain.
Sources:
X-Linked Agammaglobulinemia – Primary Immune Deficiency Disease
http://www.immunedisease.com/patients-and-families/about-pi/types-of-pi/x-linked-agammaglobulinemia-xla.html#treatment
X-Linked Agammaglobulinemia
http://www.mayoclinic.org/x-linked-agammaglobulinemia/
Agammaglobulinemia
https://health.google.com/health/ref/Agammaglobulinemia