What Are the Symptoms and Complications of XLP1?
XLP1 symptoms can vary from person to person. In general, people with this condition are at increased risk for these three health conditions:
- Hemophagocytic lymphohistiocytosis (HLH), a rare disorder of the immune system that causes organ damage (usually triggered by infection with EBV)
- Lymphoma, a type of blood cancer
- Hypogammaglobulinemia, lower than normal levels of proteins called antibodies
Not everyone with XLP1 will have all three of these conditions. It is not clear why some people get them while others do not. A person can have one of these conditions and not the others.
Children with XLP1 also can develop:
- An abnormal immune system response to EBV
- Aplastic anemia (bone marrow failure)
- Vasculitis (small blood vessel inflammation)
XLP1 and Hemophagocytic Lymphohistiocytosis (HLH)
About half of the children who have XLP1 develop hemophagocytic lymphohistiocytosis (HLH). HLH in patients with XLP1 is usually triggered by EBV infection. HLH causes uncontrolled inflammation. It damages organs in the body and can be life-threatening. 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
- Fever
- Skin rash
- Jaundice (yellowing of the eyes and skin)
- Bone marrow problems
- Anemia (not enough healthy red blood cells)
- Thrombocytopenia (low platelets)
- Neutropenia (low neutrophils)
- Digestive problems, such as problems absorbing nutrients
XLP1 and Lymphoma
About 20% to 30% of patients with XLP1 develop lymphoma. This is a cancer that affects immune cells called lymphocytes. Most of the time, in children with XLP1, lymphoma develops after a child is infected with the Epstein-Barr virus. Signs and symptoms of lymphoma include:
- Fever
- Fatigue
- Lack of appetite and weight loss
- Enlarged lymph nodes
XLP1 and Hypogammaglobulinemia
One-third to two-thirds of children with XLP1 develop hypogammaglobulinemia. This condition causes lower than normal levels of proteins called antibodies. Signs and symptoms include:
- Repeated or serious infections
- Cough
- Cold symptoms
- Stomach problems