PT  - JOURNAL ARTICLE
AU  - Ethan S Sen
AU  - Colin G Steward
AU  - Athimalaipet V Ramanan
TI  - Diagnosing haemophagocytic syndrome
AID  - 10.1136/archdischild-2016-310772
DP  - 2017 Mar 01
TA  - Archives of Disease in Childhood
PG  - 279--284
VI  - 102
IP  - 3
4099  - http://adc.bmj.com/content/102/3/279.short
4100  - http://adc.bmj.com/content/102/3/279.full
SO  - Arch Dis Child2017 Mar 01; 102
AB  - Haemophagocytic syndrome, or haemophagocytic lymphohistiocytosis (HLH), is a hyperinflammatory disorder characterised by uncontrolled activation of the immune system. It can result from mutations in multiple genes involved in cytotoxicity or occur secondary to a range of infections, malignancies or autoimmune rheumatic diseases. In the latter case, it is also known as macrophage activation syndrome (MAS). Characteristic features are persistent fever, hepatosplenomegaly, petechial/purpuric rash, progressive cytopenias, coagulopathy, transaminitis, raised C reactive protein, falling erythrocyte sedimentation rate, hypertriglyceridaemia, hypofibrinogenaemia and extreme hyperferritinaemia often associated with multi-organ impairment. Distinguishing HLH from systemic sepsis can present a major challenge. Criteria for diagnosis and classification of HLH and MAS are available and a serum ferritin >10 000 µg/L is strongly supportive of HLH. Without early recognition and appropriate treatment, HLH is almost universally fatal. However, with prompt referral and advancements in treatment over the past two decades, outcomes have greatly improved.