Previously undiagnosed fatal familial haemophagocytic lymphohistiocytosis in a 24-year-old woman
Barmettler S, Nowak RJ, Parker T, Price C. Previously undiagnosed fatal familial haemophagocytic lymphohistiocytosis in a 24-year-old woman. BMJ Case Reports 2016, 2016: bcr2015213698. PMID: 26903364, PMCID: PMC4769444, DOI: 10.1136/bcr-2015-213698.Peer-Reviewed Original ResearchConceptsFamilial haemophagocytic lymphohistiocytosisSoluble CD25 levelHaemophagocytic lymphohistiocytosisCD25 levelsDiagnosis of HLHHigh clinical suspicionInitiation of treatmentIntrathecal chemotherapyClinical suspicionCytotoxic cellsEarly recognitionDiagnostic criteriaPatientsOlder ageHomozygous mutationLymphohistiocytosisWomenCoughPancytopaeniaChemotherapyFeverPerforinMortalitySuspicionDiagnosis