Familial hemophagocytic lymphohistiocytosis 3

The symptoms may vary widely. The most common findings are unexplained high fever, irritability, general pain, oedema, hepatosplenomegaly, cytopenia (thrombocytopenia, anemia). This macrophage activation syndrome occurs after a healthy period of several months after the birth to more rarely several years, and is usually triggered by viral infection. Other early symptoms include skin rash, lymph node enlargement, and neurologic abnormalities (bulging fontanel, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsy, ataxia, hemiplagia/tetraplagia, blindness and unconsciousness). Median survival is of 2 months.

Therapeutic options