Cosa deve sapere il pediatra della linfoistiocitosi emofagocitica attraverso i casi degli specializzandi

Hemophagocytic lymphohistiocytosis (HLH) is a potentially life-threatening syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune response. HLH is not a disease by its own but is rather a common final consequence of an inherited or acquired inability of the immune system to cope with a trigger, which in most cases is an infection. HLH in autoinflammatory and autoimmune conditions is usually termed macrophage activation syndrome (MAS) and can be as severe as other forms of HLH. In absence of treatment HLH has a high mortality rate due to the overwhelming immune activation, and early recognition with prompt immunosuppressive treatment may be life saving. The paper presents four cases of HLH/MAS: each one has a different underlying cause and shows a possible presenting picture of the disease, helping paediatrician to recognize it.