Conditions / Immune

familial hemophagocytic lymphohistiocytosis 4

info ยท Immune

A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2.

Signs and symptoms

  • Hypertriglyceridemia
  • Hepatomegaly
  • Anemia
  • Recurrent fever
  • Fever
  • Splenomegaly
  • Hypofibrinogenemia
  • Increased circulating ferritin concentration
  • Hemophagocytosis
  • Thrombocytopenia

Also known as: FHL4; HLH4; HPLH4