Overcoming Diagnostic Challenges: A Rare Presentation of Primary Hemophagocytic Lymphohistiocytosis (HLH) in a Young Female and the Importance of Timely Recognition

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a severe life-threatening hematological disorder characterized by the dysregulation of the immune system and a hyperinflammatory response. Prompt treatment is crucial to prevent fatality. Although primarily affecting infants, HLH can also occur in children and adults. It is classified as primary and secondary, with primary HLH being genetic and predominantly affecting children. Secondary HLH is triggered by infections, malignancy, metabolic disorders, and rheumatological conditions. Diagnosis is based on the HLH-2004 criteria, considering clinical and laboratory parameters. Early diagnosis and treatment improve prognosis. Treatment follows the HLH-94 and HLH-2004 protocol and consists of eight weeks of induction therapy with cyclosporine, corticosteroids, and etoposide. This case describes a 26-year-old female diagnosed with HLH and successfully treated according to the protocol. The patient exhibited improvement and was discharged, demonstrating the importance of early diagnosis and appropriate management in adult HLH cases.