X Linked Agammaglobulinemia
- By sahlhealth
- September 9, 2021
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X-linked agammaglobulinemia (a-gam-uh-glob-u-lih-NEE-me-uh) â€” or XLA â€” is an inherited (genetic) immune system disorder that reduces your ability to fight infections. People with XLA may experience infections of the inner ear, sinuses, respiratory tract, bloodstream and internal organs.
XLA affects males almost exclusively, although females can be genetic carriers of the condition. Most people with XLA are diagnosed in infancy or early childhood, once it's clear that they are experiencing repeated infections. Sometimes, people are not diagnosed until adulthood.
Symptoms are likely to become apparent when your child is between 6 and 9 months old. Each child may experience symptoms differently, but common symptoms include:
- An unusual susceptibility to numerous illnesses such as:
- Nasal infections
- Skin infections
- Bone infections
- Eye infections (including pink eye)
- Sepsis, or infection of the blood stream
- Diarrhea (from gastrointestinal infections)
- Viral infections like hepatitis and polio
- Failure to grow
- Absence of tonsils and adenoids
- Joint disease, primarily in the knees, similar to juvenile rheumatoid arthritis
- Kidney inflammation
- Red blood cell breakdown
- Skin and muscle inflammation
The symptoms of X-linked agammaglobulinemia may resemble other problems or medical conditions. Always consult your child's physician for a diagnosis.
Managing X-linked agammaglobulinemia (XLA) mainly consists of preventing infections and treating infections aggressively when they do occur. Sudden infections in individuals with XLA are usually treated with antibiotics that are taken for at least twice as long as taken in healthy individuals.
Preventing bacterial infections is very important for people with XLA. Gammaglobulin (a type of protein in the blood that contains antibodies to prevent or fight infections) is the main treatment for people with XLA. In the past, most people received this by intravenous (IV) infusion every two to four weeks.
The choice of whether to receive it intravenously or by injection may just depend on what is most convenient for the doctor and/or patient. Sometimes, people with XLA have a reaction to gammaglobulin, which may include headaches, chills, backache, or nausea. These reactions are more likely to occur when they have a viral infection or when the brand of gammaglobulin has been changed. Some centers use chronic prophylactic antibiotics (continuous use of antibiotics) to prevent bacterial infections.
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for the treatment of this condition.
Women may carry the gene, but are unlikely to develop the disorder. However, an affected mother has a 50/50 chance of passing the gene to her child. Your child may be the first in your family to be diagnosed with X-linked agammaglobulinemia; this could be because the disease is a result of a new genetic mutation.
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a personâ€™s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.