Undiagnosed Systemic Lupus Erythematosus Presenting as Hemophagocytic Lymphohistiocytosis

Abstract

Hemophagocytic Lymphohistiocytosis (HLH) is rarely diagnosed in adults. Incidence is reported as one case per million persons per year. It can be triggered by conditions that affect immune homeostasis as infections, malignancies, and rheumatologic disorders. The following case demonstrates a rare instance in which undiagnosed systemic lupus erythematosus (SLE) presented as HLH. A 28-year-old male presented with progressive weakness and recurrent fevers for 2 months. Vital signs were within normal limits except for temperature of 100.3°F. His exam was unremarkable except for a left cervical scar and malar rash. His labs showed pancytopenia with neutropenia, hypertriglyceridemia, hypofibrinogenemia, and hyperferritinemia. Hemophagocytosis was present on bone marrow biopsy. All workup for a source of infection was negative. A tentative diagnosis of HLH was made based on clinical presentation and laboratory data. The patient was treated with an HLH protocol. Later, it was determined that his HLH was actually secondary to a primary diagnosis of SLE. The patient was treated for SLE with an immunosuppressive regimen of cyclosporine and dexamethasone, and he improved dramatically. HLH rarely presents due to a rheumatologic condition such as SLE. Physicians should consider testing for SLE in patients diagnosed with HLH.

Severe skin disease in lupus associated with hemophagocytic lymphohistiocytosis: case reports and review of the literature

“…Treatment of secondary HLH is less clear, but ultimately relies on treatment of the primary auto-immune disease. In the two cases presented, SLE was the process associated with HLH and corticosteroids were rapidly initiated, in keeping with previously described cases [19]. Because of the high mortality risk of HLH, the absence of rapid improvement of symptoms, even in the context of non-severe manifestations of SLE, requires aggressive immunosuppression with cyclophosphamide and frequently the addition of biologics such as Anakinra (Il1 inhibitor), infliximab (TNF inhibitor) [20] and alemtuzumab (CD52 inhibitor) [6, 21, 22].…”

Fever of Unknown Origin in a 17-Year-Old Girl

“…HLH can be primary (autosomal recessive inheritance of gene mutation) or secondary to an infection, malignancy, and autoimmune diseases [ 4 - 5 ]. HLH secondary to rheumatological conditions or MAS has a prevalence of 0.9% to 4.5% [ 6 ].…”

Unusual acute lupus hemophagocytic syndrome – a test of diagnostic criteria: a case report

“…Hemophagocytic lymphohistiocytosis (HLH) is an aggressive and life-threatening syndrome of excessive immune activation characterized by increased proliferation and activation of benign macrophages with hemophagocytosis in the bone marrow and other reticuloendothelial systems [ 1 , 2 ]. HLH is also known to cause proliferation and activation of T lymphocytes and macrophages producing an excessive inflammatory response and hypersecretion of cytokines [ 3 ].…”

“…HLH is also known to cause proliferation and activation of T lymphocytes and macrophages producing an excessive inflammatory response and hypersecretion of cytokines [ 3 ]. HLH is a rare disease in adults and the incidence is one patient per million persons per year [ 1 ]. HLH can occur as a familial primary form or secondary to infections, rheumatologic diseases, medications, and neoplasms [ 3 ].…”

“…To make matters worse, it is not easy to differentiate hemophagocytic syndromes occurring secondary to infection from those occurring due to a rheumatological cause like SLE. It is essential that this distinction is made because HLH due to SLE responds rapidly to steroids and immunosuppressants [ 1 ].…”