Early diagnosis of blood syndrome could save lives

Haemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyper-inflammatory syndrome. Hallmarks of the disease are fever, an enlarged spleen and cytopaenia — a deficiency in red blood cells An international collaboration, including a group from Al-Sabah Hospital in Kuwait, studied 11 patients diagnosed with familial HLH type 5 (FHL5), a form of HLH, to better understand the syndrome.

Recently, FHL5 was associated with mutations in the gene STXBP2, which encodes Munc18-2. The disease usually manifests in infancy, but onset may occur in childhood or adolescence. In addition to HLH symptoms, one third of the patients also manifested gastrointestinal complications, bleeding disorders and hypogammaglobulinemia (a disorder of antibody production by the humoral immune system). Whereas HLH is caused by an impaired ability of immune cells to kill infected cells, the researchers suggest that the other symptoms may result from defective Munc18-2 function in other cell types as it is widely expressed in non-immune cells such as epithelial cells of kidneys and intestines.

The authors propose that these symptoms could be used to diagnose patients with mutations in STXBP2 prior to the actual onset of HLH. The symptoms associated with the mutated gene may be beyond the realm of paediatric haematology, so it is important for other haematologists and clinicians to be aware of the condition. Early diagnosis followed by the appropriate treatment can, in many cases, save lives.

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