Familial hemophagocytic lymphohistiocytosis case in adult age

Hemophagocytic lymphohistiocytosis (HLH) is an immune disorder with high mortality due to uncontrolled activation of T lymphocytes and macrophages and excessive proliferation of inflammatory cytokines. A 37-year-old female patient diagonsed with primary HLH is presented here. The patient was hospitalized with complaints of fever, weakness, and joint pain. The patient was pancytopenic, had high ferritin and low fibrinogen. She had hepatosplenomegaly. The bone marrow biyopsy pathology result was consistent with hemophagocytosis. The patient's NK cytotoxicity was low. As a result of the genetic whole exon sequencing performed upon the presence of a family history; PRF1 / NM-001083116 / EXZON 3, C.560C> G p (Pro187Arg) came as homozygous. HLH 2004 protocol was started with the diagnosis of familial hemophagocytic syndrome. Allogeneic bone marrow transplant was planned for the patient. Pulse steroid was initiated and plasma exchange was performed due to diffuse alveolar hemorrhage in thoracic tomography performed upon the development of dyspnea, tachypnea and tachycardia at the 7th week of the treatment. The patient died at the 8th week of the treatment. In adult patients, primary hemophagocytic syndrome should be considered in differential diagnosis, treatment should be initiated after diagnosis and bone marrow transplantation should be performed as soon as possible.