Hemophagocytic lymphohistiocytosis

Also known as: hemophagocytic syndrome; HLH

Hyperinflammatory syndrome from uncontrolled activation of T cells and macrophages.

Medical specialty: Hematology
Subspecialty: Hematology / Histiocytic disorders
Sex & age distribution: Male: affected; Female: affected; Children: yes, primary HLH in infancy
Gene(s) involved: AP3B1, CD27, ITK, LYST, MAGT1, PRF1, RAB27A, SH2D1A, STX11, STXBP2, UNC13D, XIAP

Etiology & mechanism

Defective cytotoxic killing leads to cytokine storm.

Gene(s) involved (12)

AP3B1CD27ITKLYSTMAGT1PRF1RAB27ASH2D1ASTX11STXBP2UNC13DXIAP

Symptoms & signs (8)

cytopeniashepatitishyperferritinemiahypertriglyceridemialow fibrinogenneurologic involvementpersistent feversplenomegaly

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.