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Macrophage activation syndrome in juvenile systemic lupus erythematosus: a multinational multicenter study of thirty-eight patients.

OBJECTIVE: To describe the clinical and laboratory features of macrophage activation syndrome as a complication of juvenile systemic lupus e … low specificity. Among laboratory features, the best sensitivity and specificity was achieved using hyperferritinemia, followed by increased levels of lactate dehydrogenase, hypertriglyceridemia, and hypofibrinogenemia. Based on the results of statistical analysis, preliminary diagnostic guidelines for macrophage activation syndrome in juvenile SLE were developed. …

Macrophage activation syndrome induced by A/H1N1 influenza in cystic fibrosis.

Bacterial respiratory infections have an important impact on the development and progression of pulmonary disease in cystic fibrosis (CF). Viral infections are possible triggers of acute deterioration in the clinical status of CF patients. Macrophage activation syndrome (MAS) is a life-threatening complication of rheumatic disease characterized by pancytopenia, hepatitis, hyperferritinemia, coagulopathy, and neurologic symptoms. This syndrome is thought to be caused by the activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages, leading to widespread hemo…

Is a variant of uncertain significance always 'insignificant'? A systematic review on PRF1 A91V in Hemophagocytic Lymphohistocytosis and comparative analysis with Still's disease.

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory disorder that may arise secondary to rheumatic … ) and thrombocytopenia (85.7%) were the predominant laboratory abnormalities, accompanied by marked hyperferritinemia (median 9319 ng/mL). Compared with 43 active Still’s disease cases, PRF1-mutated HLH patients showed significantly higher rates of cytopenias, hepatomegaly, and central nervous system involvement, together with substantially elevated ferritin levels …

Suppressed farnesoid X receptor by iron overload in mice and humans potentiates iron-induced hepatotoxicity.

BACKGROUND AND AIMS: Iron overload (IO) is a frequent finding in the general population. As the major iron storage site, the liver is subjec … . Serum levels of bile acids and fibroblast growth factor 19 (FGF19) were quantified in adults with hyperferritinemia and children with β-thalassemia. The data demonstrated that iron suppressed FXR expression and signaling in human and mouse hepatocytes as well as in mouse liver and intestine. FXR deficiency potentiated iron hepatotoxicity, accompanied with hepatic …

[Hemophagocytic syndrome in children with different underlying conditions].

Hemophagocytic syndrome (HS) is a life-threatening condition of hyperinflammation. Main symptoms are: prolonged fever, cytopenia, hepatosplenomegaly, hemophagocytosis, hyperferritinemia, hypertriglyceridemia and hypofibrinogenemia. Primary genetic form and secondary HS associated with infections, malignancies or autoimmune disorders can be distinguished. Untreated HS in most cases leads to death. We analyzed retrospectively 7 cases of HS in children (3 girls, 4 boys; aged 10 days -14 years) treated in 3 different pediatric centers from 2004 to 2009. In 3 cases HS was associated with infections…

Cytomegalovirus-associated Disseminated Intravascular Coagulation in an Immunocompetent Patient: A Case Report and Literature Review.

A healthy 20-year-old woman presented with high fever and fatigue. Laboratory findings included normal complete blood counts and the absence of atypical lymphocytes. The patient had markedly elevated C-reactive protein, hyperferritinemia, and coagulation abnormalities consistent with disseminated intravascular coagulation, while imaging studies and extensive infectious and autoimmune workups were unremarkable. Serological testing and polymerase chain reaction confirmed a primary cytomegalovirus (CMV) infection. The administration of ganciclovir followed by corticosteroid therapy resulted in th…

Metabolic dysfunction-associated steatotic liver disease with alcohol- and iron overload-related cholestatic liver injury: a case report.

A 38-year-old woman with a >10-year history of heavy alcohol consumption presented with acute-onset jaundice and massive hepatomegaly. Laboratory tests revealed a cholestatic-pre-dominant liver injury pattern with extreme γ-glutamyl transferase elevation (>1,000 U/L) and marked hyperferritinemia (>1,500 ng/ml). Imaging excluded extrahepatic biliary obstruction. Liver biopsy demonstrated steatohepatitis with ductular reaction and stage F2 fibrosis. Metagenomic next-generation sequencing (mNGS) was negative for infectious pathogens. After alcohol abstinence, metabolic intervention, a short empir…

Adult-onset Still's Disease with Acute Kidney Injury Requiring Hemodialysis: A Case Report and Literature Review.

Adult-onset Still's disease (AOSD) is characterized by high spiking fever, evanescent rash, and arthritis. However, AOSD rarely presents with severe acute kidney injury (AKI). We herein present the case of a 56-year-old woman with new-onset AOSD who rapidly developed AKI. A physical examination and laboratory data revealed spiking fever, evanescent rash, thrombocytopenia, hyperferritinemia, and azotemia. The patient was diagnosed with AOSD complicated by AKI and macrophage activation syndrome. Treatment with high-dose steroids, hemodialysis, and plasma exchange successfully resolved her AKI. I…

Intractable Hemophagocytic Syndrome Associated with Systemic Lupus Erythematosus Resistant to Corticosteroids and Intravenous Cyclophosphamide That Was Successfully Treated with Cyclosporine A.

Hemophagocytic syndrome (HPS) associated with systemic lupus erythematosus (SLE), dubbed acute lupus hemophagocytic syndrome (ALHS), is an intractable complication of SLE. A 24-year-old man who had been diagnosed with SLE three months previously, presented with fever, rash, hallucination, and pancytopenia accompanied with hyperferritinemia and bone marrow hemophagocytosis. He was diagnosed with ALHS and neuropsychiatric (NP)-SLE. Although 4 courses of methylprednisolone pulse therapy and 1 course of intravenous cyclophosphamide (IVCY) improved his NP-SLE, his ALHS did not respond. However, the…

Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report.

Familial hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition characterized by immune hyperactivation and clinical signs of extreme inflammation. We describe a 7-year-old male who presented with fever resistant to antibiotic therapy, pancytopenia, splenomegaly, hypertriglyceridemia, and hyperferritinemia. Bone marrow aspirate showed hemophagocytosis. Epstein-Barr virus genome was positive in blood. Functional screening showed reduced capacity of cytotoxic degranulation. Mutation analysis of the FHL-related genes revealed compound heterozygous for UNC13D mutations: c. …

Is Severe Dengue a Cytokine Storm Syndrome?

The immunopathogenesis of dengue severity remains an enigma. There is a growing body of evidence pointing towards a transient hyperinflammatory hypercytokinemic state responsible for the development of severe dengue including dengue hemorrhagic fever that coincides with the onset of thrombocytopenia, capillary leak, multiorgan dysfunction and hyperferritinemia. There are several reports of dengue associated hemophagocytic lymphohistiocytosis (HLH). However, the cytokine storm in dengue as well as in other infections may not conform to the classic HLH 2004 diagnostic criteria. Following the rec…

Hemophagocytic Lymphohistiocytosis Secondary to Chronic Lymphocytic Leukemia Progression.

Hemophagocytic lymphohistiocytosis (HLH) is an acute, rare systemic hyperinflammatory disorder caused by a dysregulated immune cell function and massive cytokine release, often leading to multiple organ involvement and failure. Fever, hepatosplenomegaly, cytopenia, elevated liver enzymes, hypertriglyceridemia, and hyperferritinemia are the hallmarks of the disease. Its primary (genetic) form is typically observed in pediatric patients and its secondary, acquired form is seen in adult patients with an underlying autoimmune, malignant, or infectious disease. It is not frequently reported in pati…

A Recurrent Case of Adult-onset Still's Disease with Concurrent Acalculous Cholecystitis and Macrophage Activation Syndrome/Hemophagocytic Lymphohistiocytosis Successfully Treated with Combination Immunosuppressive Therapy.

We herein report the case of 21-year-old female diagnosed with adult-onset Still's disease (AOSD) three years earlier who presented with fever and right upper abdominal pain. She was diagnosed with acute acalculous cholecystitis (AAC) based on hepatic dysfunction, elevated C-reactive protein, and gallbladder wall thickening on abdominal ultrasound. Based on the presence of pancytopenia, hyperferritinemia, and hemophagocytosis by a bone marrow examination, she was diagnosed with macrophage activation syndrome (MAS)/hemophagocytic lymphohistiocytosis (HLH) which was refractory to glucocorticoid …

Autoinflammatory Pathogenesis and Targeted Therapy for Adult-Onset Still's Disease.

Adult-onset Still's disease (AOSD) is a rare multisystem autoinflammatory disorder of unknown etiology. AOSD is generally characterized by high spiking fever, arthralgia or arthritis, skin rash, leukocytosis, and hyperferritinemia. Traditionally, AOSD has been treated with non-steroidal anti-inflammatory drugs, corticosteroids, and immunosuppressants. An increasing number of studies have shown that proinflammatory cytokines, such as interleukin-1β, -18, -6, and tumor necrosis factor-α, play key roles in AOSD and may serve as therapeutic targets. In the current review, we provided insights into…

IVIG treatment of adenovirus infection-associated macrophage activation syndrome in a two-year-old boy: case report and review of the literature.

A 2-year-old boy with severe multiorgan disease (i.e., otitis, enteritis, bilateral pneumonia, encephalopathy, myocarditis, rash) was diagnosed with adenovirus-associated macrophage activation syndrome according to clinical and laboratory parameters (fever, hepatosplenomegaly, bicytopenia, hyperferritinemia, hypertriglyceridemia). He had no unusual history of earlier infections or a family history of hemophagocytic syndrome or immune defects. Intravenous immunoglobulin was administered to prevent exacerbation of the suspected incipient hemophagocytic syndrome. Clarithromycin, a macrolide with …

Early-Onset Hemophagocytic Lymphohistiocytosis and Inflammatory Neurotoxicity Prior to Post-transplant Cyclophosphamide: A Report of Two Cases.

We report two distinct, early hyperinflammatory toxicities after human leukocyte antigen-mismatched allogeneic hematopoietic cell transplantation with post-transplant cyclophosphamide in adult recipients. Case 1 developed severe cytokine release syndrome with shock, respiratory failure, renal failure, hyperferritinemia (22,771 ng/mL), hypertriglyceridemia (1,024 mg/dL), and multiorgan dysfunction, consistent with secondary hemophagocytic lymphohistiocytosis; he improved rapidly after receiving emapalumab. Case 2 developed fever and abrupt encephalopathy on day +2 with negative infectious and n…

Macrophage Activation Syndrome Associated with Adult-onset Still's Disease Successfully Treated with Plasma Exchange and Canakinumab.

We herein describe the case of a 20-year-old Japanese woman with adult-onset Still's disease (AOSD) complicated by macrophage activation syndrome (MAS). Despite the administration of prednisolone and tocilizumab, MAS developed with hyperferritinemia, thrombocytopenia, hypertriglyceridemia, and liver dysfunction. Steroid pulse therapy, cyclosporine A, and plasma exchange (PE) improved the patient's condition. However, diabetes hinders glycemic control under high-dose steroids. Subcutaneous canakinumab (300 mg/month) was initiated, thus enabling rapid prednisolone tapering to 10 mg within one mo…

Хронический гепатит и гемофагоцитический лимфохистиоцитоз связаны с системным хроническим активным вирусом Эпштейн-Барр.

Систематическое хроническое активное заболевание вируса Эпштейн-Барр (ЭБВ) является редким, запоздалым и угрожающим жизни осложнением инфекции ЭБВ. Для него характерны устойчивая виремия и мононуклеозный синдром с многосистемным участием из-за инфильтрации лимфоцитной ткани. Мы представляем случай с 82-летней женщиной, не имеющей известного иммунодефицита, у которой были аномальные ферменты печени и пневмония. Расследования выявили гиперферритемию, повышенный уровень растворимого интерлейкина-2 рецептора, гипофибриногенемию и гепатоспленомегали, что соответствует гемофагоцитическому лимфохисти

Совпадение в аннотации оригинала
Systemic chronic active Epstein-Barr virus (EBV) disease is a rare, delayed, and life-threatening complication of EBV infection. It is chara … iency who presented with abnormal liver enzymes and interstitial pneumonia. Investigations revealed hyperferritinemia, elevated soluble interleukin-2 receptor levels, hypofibrinogenemia, and hepatosplenomegaly, consistent with hemophagocytic lymphohistiocytosis, as well as a high EBV viral load. Liver biopsy demonstrated portal chronic lymphocytic inflammation and …

Severe Erythroderma Due to Adult-onset Still's Disease-like Disease Related to Graft-versus-host Disease after Allogeneic Hematopoietic Stem Cell Transplantation.

A 35-year-old woman was treated with chemotherapy for leukemia. One year later, allogeneic hematopoietic stem cell transplantation (HSCT) was performed with umbilical cord blood. After nine months, she developed a spiking fever, sore throat, arthralgia, pleural effusion, hyperferritinemia, and persistent generalized pruritic erythema. A skin biopsy showed dyskeratotic cells in the epidermis, neutrophil infiltration in the epidermis and upper dermis, and neutrophils in the parakeratotic layer. Treatment with tocilizumab was effective. Adult-onset Still's disease (AOSD)-like disease related to g…

A hyper-ferritinemia syndrome evolving in recurrent macrophage activation syndrome, as an onset of amyopathic juvenile dermatomyositis: a challenging clinical case in light of the current diagnostic criteria.

Juvenile dermatomyositis is an immune-mediated inflammatory multi-system disease involving mainly striated muscles and skin. Typical dermatological features are fundamental to establish the diagnosis, especially whenever the myopathy is very mild or absent, as it occurs in the form called as amyopathic juvenile dermatomyositis. Sometimes, systemic rheumatic diseases can develop a hyperferritinemia syndrome characterized by hemophagocytosis, namely macrophage activation syndrome, which represents a severe and life-threatening complication. Here, we describe a complex clinical history characteri…