What Are the Signs, Symptoms, and Other Problems of X-Linked Lymphoproliferative Disease?
Children with X-linked lymphoproliferative disease often begin showing symptoms between 6 months and 10 years of age. Symptoms can vary from person to person. Symptoms can be mild or severe.
One big risk factor for children with X-linked lymphoproliferative disease is that their immune system cannot fight the Epstein-Barr virus (EBV). EBV is a common virus that can cause infectious mononucleosis (mono) and other illnesses.
In children with a working immune system, EBV infection symptoms can include extreme fatigue, fever and sore throat. However, children with X-linked lymphoproliferative disease can develop potentially severe complications in response to EBV. These include:
- Hepatitis, in which the liver is inflamed
- Hemophagocytic lymphohistiocytosis (HLH), a severe immune response that can be life-threatening. This is more common in children with XLP2 / XIAP deficiency. Signs and symptoms of HLH include:
- Swollen lymph nodes (glands in the neck, under the arm or in the groin)
- Enlarged liver and spleen
- Liver, heart, spleen and kidney damage
- Fevers
- Skin rashes
- Jaundice (yellowing of the eyes and skin)
- Bone marrow problems
- Anemia (not enough healthy red blood cells)
- Digestive problems, such as problems absorbing nutrients
Other signs and symptoms of X-linked lymphoproliferative disease include:
- Hypogammaglobulinemia (lower than normal levels of proteins called antibodies), which increases the risk of infection and can lead to recurrent infections
- Recurrent fevers, an enlarged spleen and low blood counts
- Aplastic anemia (bone marrow failure)
- Vasculitis (small blood vessel inflammation)
In addition, children with XLP1 can develop a blood cancer called lymphoma as a result of the condition. Children with XLP2 / XIAP deficiency are at risk of developing inflammatory bowel disease. Symptoms include belly pain, loose stools and bleeding in the gastrointestinal tract.
Frequency of complications associated with XLP1:
|
Percent of Patients |
HLH |
45-58% |
Low Antibody Levels |
31-67% |
Lymphoma |
21-30% |
Table 1. Manifestations of SAP deficiency (XLP1). Based on Seemayer et al. 1995; Schmid et al. 2011; Kanegane et al. 2012; Booth et al. 2011.
Frequency of complications associated with XLP2 / XIAP deficiency:
|
Percent of Patients |
HLH |
67-90% |
Incomplete HLH
(Splenomegaly, with or without low blood counts, fever) |
33-87% |
Low Antibody Levels |
22-33% |
Inflammatory Bowel Disease |
17-22% |
Table 2. Manifestations of XIAP deficiency (XLP2). Based on Pachlopnik Schmid et al 2011, Yang et al 2012, Marsh et al 2010.