The sinister course of hemophagocytic lymphohistiocytosis Free

Hemophagocytic lymphohistiocytosis (HLH) is a rare and life threatening disease that causes systemic hyperinflammation, which can lead to end-organ damage and ultimately death. People of all ages are affected, however, it is more commonly seen in children. The incidence of HLH in adults is about 1 out every 2,000. This condition can be divided into primary versus secondary: genetic versus acquired causes. It is important to establish a diagnosis early and initiate treatment in a timely manner due to the nefarious course of the disease as it is associated with high risk of mortality.

We present a rare case of an adult patient who met the criteria for HLH with underlying cause from Epstein Barr Virus (EBV). A 29-year-old female with no significant past medical history presented to the emergency department with non-tender left-sided neck swelling for two weeks and subconjunctival hemorrhage for five days. A non-contrast CT of the neck showed substantial bilateral cervical lymphadenopathy, causing mild deviation of oropharyngeal structures to the right. CT abdomen and pelvis revealed mild hepatomegaly, prominent splenomegaly, and multiple enlarged retroperitoneal and periaortic lymph nodes. She tested positive for Epstein-Barr virus (EBV) and was discharged on Augmentin with ENT follow-up. After this, the patient had a series of hospital admissions due to progression of her symptoms. Bone marrow biopsy showed normocellular marrow (80%) with megakaryocytic hyperplasia, sequential granulopoiesis and erythropoiesis, and increased hemophagocytosis. A left mandibular lymph node biopsy revealed necrotic fibroadipose tissue with poorly formed granulomata and no malignancy. The patient met 7 out of 8 criteria for HLH by having splenomegaly, cytopenias, increased ferritin, elevated triglycerides, low fibrinogen, hemophagocytosis on bone marrow biopsy, and soluble IL2 receptor of 3959.2. At the end of the patient's final hospital course, she became increasingly hypotensive, unresponsive to IV fluids, and required ICU transfer and initiation of vasopressors. The patient continued to worsen and unfortunately passed away shortly thereafter.

A clinical diagnosis of HLH should be suspected in patients with a variety of hyperinflammatory clinical presentations, such as patients who seem to be having a hyperinflammatory process in the setting of EBV infection. This disorder is caused by uncontrolled immunologic processes that could lead to a cytokine storm, such as uncontrolled activation of uncontrolled macrophages, natural killer cells, and cytotoxic T lymphocytes. The prognosis for HLH is very poor and should be diagnosed in a timely manner to receive appropriate management and treatment.