SHM Converge Scientific Abstract ePoster Gallery-An Off-Label Use, a Life-Saving Outcome: Ruxolitinib as an Underexplored Alternative for Refractory HLH-Mas Syndrome

Pdf Summary

This case describes a 25-year-old woman with autism spectrum disorder and recurrent respiratory infections who presented with fever, weakness, joint pain, hepatosplenomegaly, and a maculopapular rash. Laboratory studies showed marked inflammation and cytopenias, including elevated ferritin, AST, LDH, CRP, ESR, leukocytosis, anemia, and borderline thrombocytopenia. Bone marrow biopsy demonstrated hypocellularity, pancytopenia, and hemophagocytic histiocytes, confirming hemophagocytic lymphohistiocytosis with macrophage activation syndrome (HLH-MAS) secondary to adult-onset Still’s disease. Genetic testing was negative.<br /><br />The patient was initially treated with multiple conventional therapies, including high-dose steroids, anakinra, tocilizumab, IVIG, and etoposide, but these either failed or caused adverse effects such as anaphylaxis, neutropenia, transaminitis, and lack of improvement. Ruxolitinib was then started off-label after hematology/oncology had previously recommended against it. The dose was escalated from 5 mg twice daily to 15 mg twice daily over 17 days.<br /><br />After 15 days of ruxolitinib, the patient showed significant clinical and laboratory improvement. Ferritin, liver enzymes, LDH, CRP, ESR, and white blood cell count decreased, while hemoglobin and platelet count improved substantially. The case highlights ruxolitinib as a promising alternative for refractory HLH-MAS when standard treatments are ineffective or not tolerated. It also emphasizes the need for a comprehensive, multidisciplinary approach to diagnosis and management of this multisystem disease.

Asset Subtitle

Tomas Escobar Gil

Meta Tag

Author List Angelica Garcia, Daniel Babu, Kimberly Nguyen, Leonard Noronha, Malik Alqawasmi, Tomas Escobar Gil

Category Clinical Vignettes

Concept HLH-MAS

Concept Systemic Inflammation

Concept Cytopenia

Concept Hyperferritinemia

Concept Hepatosplenomegaly

Distinguished Non-Finalist

Presenter Organization University of New Mexico

Presenting Author Tomas Escobar Gil

Track Adult

Keywords

hemophagocytic lymphohistiocytosis

macrophage activation syndrome

adult-onset Still’s disease

ruxolitinib

refractory HLH

ferritin elevation

cytopenias

bone marrow biopsy

autism spectrum disorder

multidisciplinary management

HLH-MAS

Systemic Inflammation

Cytopenia

Hyperferritinemia

Hepatosplenomegaly