Familial hemophagocytic lymphohistiocytosis case in adult age

• DOI: 10.51271/jchor-0060
• Publication Date: 2025-05-12T06:51:06Z
• Authors: Kemal Fidan; Hatice Gözde Çilek; Mustafa Baydar; Serhat Çelik; Ali Ünal; Fırat Özçelik; Munis Dündar; Neslihan Mandacı ...; Gülşah Akyol; Muzaffer Keklik
• Keywords: Hemophagocytic Lymphohistiocytosis

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