INTRODUCTION

Macrophage Activation Syndrome (MAS) is a rare but life threatening pro-inflammatory complication of multiple autoimmune diseases leading to cytokine storm. We report a case of MAS as a presenting manifestation of Systemic Lupus Erythematosus.

A 32-year-old female, newly diagnosed with Systemic Lupus Erythematosus (SLE), presents with a 3-month history of fever and joint pains, which began a few days after receiving her first dose of a viral vector COVID-19 vaccine. She later developed facial edema, and her fever became persistent and unremitting. Upon presentation, she was initially hypotensive, tachycardic, with distended neck veins, with periorbital edema and muffled heart sounds. Initial work-up revealed pericardial effusion, anemia, thrombocytopenia, elevated creatinine, hypoalbuminemia, hematuria, and pyuria. She was intubated, started on inotrope, and underwent pericardiocentesis. Patient was classified as SLE based on Systemic Lupus International Collaborating Clinics Classification (SLICC) Criteria despite negative antinuclear antibody (ANA). Nevertheless, she was started on IV steroids and hydroxychloroquine. She was eventually extubated after significant clinical improvement. Further work-up for MAS was however done due to persistent febrile episodes. Hyperferritinemia, hypertriglyceridemia, hypercholesterolemia, pancytopenia, transaminitis, and splenomegaly on imaging were noted. She was then started on methylprednisolone pulse therapy. After treatment, marked clinical improvement, as well as resolution of transaminitis and pancytopenia were noted.

A high index of suspicion for MAS should exist in a patient with pyrexia of unknown origin with concomitant autoimmune disease. In this disease that can lead to progressive organ failure, early diagnosis and management is crucial. This case report culminates the need for diagnostic and therapeutic guidelines that will help in the early diagnosis and immediate treatment of this debilitating condition.

Langerhans Cell Histiocytosis (LCH) is a rare disorder characterized by the abnormal proliferation of histiocytes, predominantly affecting the bones and skin. However, it can also involve the bone marrow, liver, spleen, lungs, pituitary gland, central nervous system, and other organs. The disorder is named for the neoplastic cells that resemble dendritic Langerhans cells found in the skin and mucosa.

We present the case of a 2-year-old Filipino female diagnosed with recurrent LCH, highlighting the diagnostic challenges and therapeutic interventions encountered. The patient initially presented with characteristic papules and plaques indicative of LCH. Initial treatment involved multi-agent chemotherapy, which resulted in significant clinical improvement. However, following the cessation of therapy, the patient experienced recurrence of symptoms, necessitating reevaluation. A skin punch biopsy confirmed the diagnosis of LCH, reinforcing the decision to reinitiate chemotherapy. Complications arose during treatment, including febrile neutropenia, which required hospitalization and adjustments to the management plan. After completing the chemotherapy cycles, the patient demonstrated marked clinical improvement, with the resolution of systemic symptoms and a reduction in the severity of cutaneous lesions.

This case underscores the complexities in managing recurrent LCH in pediatric patients. A comprehensive diagnostic evaluation, vigilant monitoring for treatment-related complications, and prompt therapeutic interventions are critical for achieving optimal outcomes. Effective management requires a multidisciplinary approach to address the unique challenges presented, ensuring timely interventions to improve patient outcomes.

Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia affecting children 2-5 years old. The clinical presentation ranges from self-resolving localized disease to fulminant, fatal disseminated disease. While the most common presentation of LCH are small, translucent crusted papules on the trunk, intertriginous areas, and scalp, it may present as crusted plaques and alopecia. A 3-year-old male presented with a 4-month history of solitary, well-defined, hyperpigmented plaque with yellow-brown crust on the left parieto-occipital area of the scalp measuring 1.5 x 1.5 cm and a solitary, well-defined, hairless patch with areas of erythema on the left parieto-occipital area measuring 5.0 x 6.0 cm. Scalp biopsy revealed diffuse collection of lymphohistiocytes interspersed with distinct kidney bean-shaped cells. CD1a is positive for cells of interest. Skeletal survey revealed lytic lesions involving the skull, thoracic cage, spine, pelvis, and upper and lower extremities. The rest of the physical examination findings revealed lymphadenopathy, crackles, globular abdomen with right and left upper quadrant dullness. The patient had episodes of fever, difficulty of breathing, and abdominal pain. The patient received chemotherapy as multisystem LCH based on prednisone and vinblastine. Following 3 courses of chemotherapy, there is noted hair regrowth and sloughing off of crust.

The acquired immunodeficiency syndrome patients with compromised immunity are prone to hemophagocytic syndrome secondary to opportunistic infections.This paper reports a rare case of hemophagocytic syndrome secondary to human parvovirus B19 infection in an acquired immunodeficiency syndrome patient,and analyzes the clinical characteristics,aiming to improve the diagnosis and treatment of the disease and prevent missed diagnosis and misdiagnosis.
Humans ; Lymphohistiocytosis, Hemophagocytic/drug therapy* ; Erythema Infectiosum/complications* ; Acquired Immunodeficiency Syndrome/complications* ; Parvoviridae Infections/diagnosis* ; Parvovirus B19, Human

We report a case of hemophagocytic syndrome (HPS) secondary to brucellosis, in which typhoidal cells were found in bone marrow, suggesting typhoidal cells present not only in Salmonella typhi infections but also in other bacterial infections. Typhoidal cells in bone marrow can be used to quickly identify the presence of bacterial infection pending the results of bone marrow and/or blood cultures.
Female ; Humans ; Typhoid Fever/microbiology* ; Lymphohistiocytosis, Hemophagocytic/etiology* ; Brucellosis/complications*

Humans ; Histiocytosis, Sinus/diagnosis* ; Fractures, Compression/complications* ; Diagnosis, Differential

OBJECTIVE: To compare the clinical characteristics of children with hemophagocytic lymphocytosis (HLH) associated with primary Epstein-Barr virus (EBV) infection and EBV reactivation, and explore the effects of different EBV infection status on the clinical indexes and prognosis of HLH. METHODS: The clinical data of 51 children with EBV associated HLH treated in Henan Children's Hospital from June 2016 to June 2021 were collected. According to the detection results of plasma EBV antibody spectrum, they were divided into EBV primary infection-associated HLH group (18 cases) and EBV reactivation-associated HLH group (33 cases). The clinical features, laboratory indexes and prognosis of the two groups were analyzed and compared. RESULTS: There were no significant differences in age, gender, hepatomegaly, splenomegaly, lymphadenopathy, neutrophil count in peripheral blood, hemoglobin content, platelet count, plasma EBV-DNA load, lactate dehydrogenase, alanine aminotransferase, aspartate aminotransferase, albumin, fibrinogen, triglyceride, ferritin, hemophagocytosis in bone marrow, NK cell activity and sCD25 between the two groups(P>0.05). The central nervous system involvement and CD4/CD8 in EBV reactivation-associated HLH group were significantly higher than those in primary infection-associated HLH group, but the total bilirubin was significantly lower than that in primary infection-associated HLH group (P<0.05). After treatment according to HLH-2004 protocol, the remission rate, 5-year OS rate and 5-year EFS rate of patients in EBV reactivation-associated HLH group were significantly lower than those in EBV primary infection-associated HLH group (P<0.05). CONCLUSION EBV reactivation-associated HLH is more likely to cause central nervous system involvement and the prognosis is worser than EBV primary infection-associated HLH, which requires intensive treatment.
Child ; Humans ; Epstein-Barr Virus Infections/complications* ; Lymphohistiocytosis, Hemophagocytic/complications* ; Herpesvirus 4, Human ; Retrospective Studies ; Prognosis

OBJECTIVE: To investigate the expression and clinical significance of soluble Fas (sFas) and sFasL in patients with secondary hemophagocytic lymphohistiocytosis (sHLH). METHODS: From September 2015 to December 2020, 86 sHLH patients who met the HLH2004 diagnostic criteria were collected. They were divided into 55 cases in the MAHLH group and 31 cases in the NonMAHLH group according to the etiology. Thirty healthy persons were chosen as the normal control group, and 20 patients with systemic lupus erythematosus (SLE) were chosen as the disease control group. The expression levels of sFas and sFasL in the serum of patients with each group were detected by ELISA, and the clinical data were collected for statistical analysis. The significance of sFas and sFasL in sHLH was analyzed by ROC curve. RESULTS: Serum levels of sFas and sFasL in patients with newly diagnosed sHLH were significantly higher than those in disease control group and normal control group (P<0.01). The levels of sFas and sFasL in MAHLH group were significantly higher than those in nonMAHLH (infection related HLH and autoimmune disease related HLH) group (P<0.01). The serum levels of sFas and sFasL in 17 newly treated patients with sHLH (17/86) after treatment were significantly lower than those before treatment (P<0.01). The serum sFas level in newly diagnosed sHLH patients was positively correlated with SF(r=0.35), sCD25(r=0.79) and sFasL(r=0.73). The serum sFasL level was positively correlated with SF(r=0.39), sCD25(r=0.64) and sFas(r=0.73). Compared with the NonMAHLH group, the area under the ROC curve was 0.707 (95% CI: 0.593-0.821) (P=0.0015). The optimal critical value for diagnosing MAHLH by sFas level was 12 743 pg/ml, and the sensitivity and specificity were 70.9% and 71% respectively. Compared with the NonMAHLH group, the area under the ROC curve was 0.765(95% CI: 0.659-0.87)(P<0.01). The median OS time of sFas high expression group (≥16798.5 pg/ml) and sFasL high expression group (≥4 785 pg/ml) was significantly shorter than that of the low expression group (P<0.001). CONCLUSION Serum levels of sFas and sFasL can be used for the early diagnosis and differential diagnosis of sHLH disease, and are the factor related to the poor prognosis of sHLH.
Humans ; Lymphohistiocytosis, Hemophagocytic ; Clinical Relevance ; ROC Curve ; Sensitivity and Specificity ; Lupus Erythematosus, Systemic

Humans ; Lymphohistiocytosis, Hemophagocytic/therapy* ; Receptors, Chimeric Antigen ; Immunotherapy, Adoptive

Humans ; Histiocytosis ; Receptor Protein-Tyrosine Kinases