The following is a summary of “Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants,” published in the January 2024 issue of Allergy & Immunology by Bloch, et al.
For a study, researchers sought to investigate the potential association between adult hemophagocytic lymphohistiocytosis (HLHa) outcomes and variants in HLH-related genes.
Clinical data were collected from 130 HLHa patients (age ≥ 18 years and HScore ≥ 169) and genotype information of 8 HLH-related genes. A total of 34 variants in 6 genes were selected based on frequency and predicted impact on protein function. Severity was assessed by refractory disease to HLH treatment, death, or transfer to an intensive care unit.
HLHa-associated diseases included neoplasia (37.7%), autoimmune/inflammatory disease (25.4%), and idiopathic cases (36.9%). Infectious events occurred in 58.5% of patients. Severe and refractory HLHa was observed in 61.5% and 49.2% of patients, respectively. Variables such as HScore, age, sex ratio, associated diseases, and infectious events did not significantly correlate with HLHa severity. However, the presence of gene variants was significantly associated with HLHa severity (P = .0008) and refractoriness (P = .018).
The findings suggested that HLH-related gene variants may play a significant role in determining the severity and refractoriness of HLHa. Further research was needed to elucidate the specific mechanisms underlying this association and explore potential implications for personalized treatment approaches in HLHa patients.
Reference: jacionline.org/article/S0091-6749(23)01109-0/fulltext