Genetic testing
Confirming HLH with a genetic etiology
HLH can be associated with a range of genetic abnormalities, which influence the regulation of a patient’s immune response.1 Identifying these genetic triggers is crucial because they will have an impact on the appropriate treatment strategy.2
It’s also important to note that not all genetic causes that can lead to HLH have been identified, and this is an area that is continually being studied.2
Known genetic triggers for HLH
This is not an exhaustive list of all the genetic mutations associated with HLH. More than 50% of cases may be caused by mutations in unidentified genes.4
Timely genetic testing
It can take time to receive the results from a genetic testing panel. It’s encouraged to send out the genetic testing order as soon as possible once you begin to suspect HLH and continue on with other assessments while you wait.2
References: 1. Jordan MB, Allen CE, Greenberg J, et al. Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: recommendations from the North American Consortium for Histiocytosis (NACHO). Pediatr Blood Cancer. 2019;66(11):e27929. doi:10.1002/pbc.27929 2. Jordan MB, Allen CE, Weitzman S, Filipovich AH, McClain KL. How I treat hemophagocytic lymphohistiocytosis. Blood. 2011;118(15):4041-4052. doi:10.1182/blood-2011-03-278127 3. Cincinnati Children’s Diagnosing HLH. Accessed October 23, 2023. https://www.cincinnatichildrens.org/service/h/hlh/clinical/test 4. Rosado FG, Kim AS. Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis. Am J Clin Pathol. 2013;139(6):713-727. doi:10.1309/AJCP4ZDKJ4ICOUAT
