X-Linked Lymphoproliferative Disease (XLP) is a very rare immunodeficiency disorder that causes the immune system to be highly responsive to infection with the Epstein-Barr virus (EBV). This virus in other patients usually does not have long-lasting effects. However, in those with XLP, exposure to EBV can cause severe health problems like fulminant hepatitis, low levels of antibodies in the blood and body secretions, and malignancies of lymph tissues. There are many other secondary health issues that can happen in patients with this immunodeficiency as well.
Most patients experience an onset of symptoms at about 6 months of age to about 10 years of age. This condition can remain “silent” for long periods of time until the patient is exposed to EBV. Male patients with XLP tend to develop hepatic complications as well as blood disorders. In females, symptoms are usually not expressed due to this being an x chromosome disorder.
The common symptoms of XLP are:
This condition is caused by an inherited X-linked recessive gene trait. This is why males are much more likely to experience illness when carrying this gene, and female patients are highly unlikely to experience symptoms. Females are often carriers for this condition and can transfer this mutation to their children. There are two risk factors for this condition: having the mutated chromosome that causes it and being exposed to EBV.
XLP is almost always diagnosed when the patient becomes symptomatic. Most patients do not know that one of their parents is a carrier. Genetic testing can confirm the chromosomal issue that causes this condition, and blood tests will also reveal imbalances related to poor liver and spleen function. Most patients will have an enlarged spleen and liver, which is captured with CT scans or by MRI.
Lab tests can reveal aplastic anaemia and other kinds of secondary health issues that are commonly linked with this genetic disorder. Because liver health issues are so uncommon in small children, this condition is often suspected if the child has presented with sudden and severe liver health challenges.
The treatment for this condition can vary depending on the severity of the symptoms experienced by the patient. This condition is often identified once the patient arrives at an ER in serious condition. This means that there will be lots of emergency support needed to stabilise the patient’s liver health and to work on getting blood values back to healthy levels. Genetic testing might be done during all of the various other work that is done to stabilise a patient so that this condition can be correctly identified.
This condition can be cured with an allogeneic hematopoietic stem cell transplant. This is a bone marrow transplant that includes blood-forming stem cells. Patients who are eligible for this treatment will need to work with a specialist to find a donor and to guide the process of completing the treatment.
Patients can be treated with steroids, chemotherapy drugs, and immune-suppressing medications as well. In patients with inflammatory bowel disease, immune suppression is more helpful. Liver function can be supported with immunoglobulin replacement therapies in patients with live health complications.
There is no way to prevent this condition other than for parents to have genetic testing before conceiving a child. Potential parents who find out that they carry the gene for this condition will need to work with specialists to determine the risk of transmitting this chromosome problem to their children.