A Storm to be Reckoned With: Hemophagocytic Lymphohistiocytosis

Background: Hemophagocytic Lymphohistiocytosis (HLH) is a poorly understood disorder. There are primary (familial hemophagocytic lymphohistiocytosis) and secondary forms (reactive HLH) that are acquired from autoimmune disorders, malignancy, or infection. Although a specific diagnostic criteria exists for children, no such criteria exists for adults and that is why early recognition of clinical and lab signs is essential. Case Information: A 41 year old Vietnamese woman presented with unintentional 12 pound weight loss, odynophagia, anorexia, periumbilical pain, nausea, and dizziness. She also had a rash that spread from her axilla to her torso/extremities. Of note, she had a history of blood transfusions and travel to Vietnam. Labs revealed: pancytopenia, transaminits, elevated antinuclear antibody, Sjogren's A antibody, double stranded DNA antibody, hyperferritinemia, and hypertriglyceridemia. Bone marrow findings were insignificant. She was suspected to have HLH and treatment was promptly started with IV corticosteroids. Unfortunately, on day 5 of admission her condition acutely deteriorated and she expired. Conclusions: HLH is thought to be caused by uncontrolled macrophage and Th-1 lymphocyte activation. Excess production of cytokines such as IFN-γ, soluble IL-2 receptor, TNF-α, IL-1, IL-6, and IL-18 have been reported. This leads to a cytokine storm. Early diagnosis and treatment is very important in this disease since it carries a very high mortality rate of 50% despite appropriate treatment. Treatment consists of IV corticosteroids, IVIG, cyclosporin/anakinra/plasma exchange/etoposide, supportive care, transfusions, and blood pressure control.