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

Abstract

Background Hemophagocytic lymphohistiocytosis (HLH) is a severe clinical entity associated with high mortality in the adult population. HLH has been associated with infections, malignancy and autoimmune conditions such as Systemic Lupus Erythematosus (SLE), however this is often in the context of a disease flare. Currently, there are limited reports of inaugural SLE manifesting as HLH with a lack of consensus on treatment and management of these patients. Case presentation Here, we present two rare case reports of severe cutaneous manifestation of lupus associated with HLH. Both patients presented with sinister clinical courses with primarily rheumatologic complaints including malaise, arthralgia, and myalgia with biochemical abnormalities. Both patients were diagnosed with HLH as a result of first presentation from cutaneous lupus. A comprehensive literature review using the PubMed database with cases comprising keywords of HLH and SLE up to September 2017 was conducted, with an emphasis on inaugural cutaneous SLE cases. Conclusions Ultimately, we highlight that a keen clinical acumen is required as misdiagnosis may lead to insufficient treatment with adverse clinical outcomes with the unique presentation of HLH from inaugural cases of SLE.

Systemic Lupus Erythematosus With Hemophagocytic Lymphohistiocytosis: Is COVID-19 the Inciting Factor?

“…HLH is a rarely diagnosed, life-threatening condition that consists of a constellation of symptoms caused by cytokine storm and excessive immune activation [ 1 ]. The incidence of HLH has been reported to be one case per million persons per year [ 2 ].…”

“…The incidence of HLH has been reported to be one case per million persons per year [ 2 ]. HLH can occur as the familial primary form due to genetic defects leading to a decrease in the cytotoxic activity of natural killer (NK) cells or due to secondary etiologies, including infection, an autoimmune condition, malignancy, medications, and rheumatological conditions [ 1 ]. It usually affects children and young adults.…”

“…This scoring system incorporates cytopenia, fever, organomegaly, fibrinogen, ferritin, alanine aminotransferase, and hemophagocytosis, with an HScore of >250 consistent with 99% probability of HLH and <90 conferring <1% probability of HLH. The typical treatment for primary HLH includes etoposide, dexamethasone, cyclosporine, and the consideration of hematopoietic stem cell transplant [ 1 ]. The treatment of secondary HLH relies on the treatment of the primary disease.…”

“…HLH is categorized into two separate forms. The primary or familial form is autosomal recessive [ 1 ], whereas the acquired or secondary form can be due to infectious causes, malignancies, or rheumatological disorders. HLH is characterized by systemic hyperinflammation due to the uncontrolled proliferation of lymphocytes, macrophages, and CD8 T-cells, leading to massive cytokine release.…”