Patients and clinical manifestation
autoimmune disorder, aggressive HLH, malignancy, myelodysplastic syndrome, hypofibrinogenemia/hypertriglyceridemia, hepatosplenomegaly, hemophagocytosis, cytopenia, HLH, 7).Four
AUTOIMMUNE DISORDER, PERSISTENT FEVER, MYELODYSPLASTIC SYNDROME, HEMOPHAGOCYTOSIS, SECONDARY, CYTOPENIA
A total of 8 patients with HLH were included, with a median age of 46.5 years (range, 27-76 years), comprising of 2 male and 6 females. HLH was secondary to malignancy (n=4, 2 of myelodysplastic syndrome and 2 of lymphoma), autoimmune disorder (n=3), or pregnancy (n=1). Prior to receiving ruxolitinib, all patients presented with typical features of aggressive HLH, including persistent fever (8/8), cytopenia (8/8), hepatosplenomegaly (7/8), hypofibrinogenemia/hypertriglyceridemia (8/8), hemophagocytosis (5/8), low NK-cell activity (2/8), and elevated serum ferritin (8/8) and sCD25 (8/8) levels. Genetic testing showed heterozygous mutations in the PRF1 gene in 2 patients (patient 3 and 5) and LYST gene in 2 patients (patient 2 and 7).Four of the enrolled patients had received prior treatment for HLH, including corticosteroids (2 patients), IVIG (1 patient), and a combination of corticosteroids, IVIG, and Cyclosporin A (1 patient). Of these patients, 2 did not respond to treatment, while the other 2 experienced transient improvements followed by rapid relapses. The median time from onset of HLH to initiation of ruxolitinib therapy was 18 days (range, 6-34 days). The clinical characteristics of all 8 patients are summarized in Clinical characteristics of the patients.F, female; M, male; ND, not detected; WBC, white blood cell; PLT, platelets count; Fbg, fibrinogen; TG, triglyceride; NK-cell, natural killer cell.