A Síndrome hemofagocítica, ou Linfo-histiocitose hemofagocítica, é uma condição rara, relacionada à hiperativação imunológica, que desencadeia um estado hiperinflamatório, levando aos sinais e sintomas da síndrome, como febre alta prolongada, hepatoesplenomegalia e citopenias. A HLH pode ter origem genética – HLH familiar ou primária – ou ser secundária a quadros infecciosos, reumatológicos, malignos ou metabólicos – HLH adquirida ou secundária.
Introdução
O que você precisa saber de cara
Síndrome hemofagocítica associada a infecção é uma condição rara caracterizada por resposta imune desregulada a infecções (como CMV, EBV), levando a inflamação sistêmica, esplenomegalia, hepatomegalia e citopenias. Pode cursar com sintomas neurológicos como ataxia e paralisia de nervos cranianos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 35 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome hemofagocítico associado a infecção
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The purpose of the study is to analyze the clinical features, treatment, and survival outcomes of Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis (EBV-HLH) with positive cerebrospinal fluid (CSF) EBV-DNA in children. Patients diagnosed with EBV-HLH admitted to our center from January 2019 to August 2024 were enrolled and divided into a CSF-EBV group and a non-CSF-EBV group based on CSF EBV-DNA test results. Neurological manifestations were observed in only 33.3% (13/39) of children with CSF-EBV positivity, while 48.7% (19/39) showed abnormal brain magnetic resonance imaging findings. The CSF-EBV group had a higher blood EBV-DNA load (P = 0.002) and a lower CD4+/CD8+ ratio (P = 0.034) compared with the non-CSF-EBV group. A strong positive correlation was observed between CSF EBV-DNA load and CSF cell count (r = 0.800, P < 0.0001). Overall survival was shorter in the CSF-EBV group (P = 0.017). Multivariate Cox regression identified EBV-associated central nervous system (EBV-CNS) infection as a potential independent risk factor for poor prognosis (HR = 6.077, 95% CI: 1.345-27.435, P = 0.019). Intrathecal methotrexate and dexamethasone effectively reduced CSF viral load (P = 0.003) and cell count (P = 0.042), but did not significantly improve overall survival (P = 0.3). EBV-CNS infection may be an independent risk factor for poor prognosis in pediatric EBV-HLH, underscoring the importance of CSF EBV-DNA testing, particularly in patients with high blood loads. Although intrathecal therapy effectively reduced CNS viral load and inflammation, its survival benefit requires further validation in large-scale prospective studies. • CNS involvement is a well-established poor prognostic factor in HLH. • EBV-CNS infection is an independent prognostic risk factor in adult EBV-HLH. • EBV-CNS infection is an independent prognostic risk factor in pediatric EBV-HLH. •While intrathecal therapy effectively reduces CSF viral load and inflammation, its survival benefit still requires further validation through large-scale prospective studies.
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Construction of a forest plot prediction model based on Lasso regression for Epstein-Barr virus associated hemophagocytic lymphohistiocytosis in children.
To identify risk factors for the progression of Epstein-Barr virus(EBV) infection to Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) and guide clinical intervention by analyzing the clinical data and laboratory examination between infectious mononucleosis and EBV-HLH infection using a forest plot prediction model. Clinical data and laboratory tests of children with “Epstein-Barr virus infection and hemophagocytic lymphohistiocytosis” who were hospitalized in Children’s Hospital of Soochow University from January 2019 to December 2024 were collected. A total of 1358 children of infectious mononucleosis associated with EBV (IM group) and 86 children of hemophagocytic lymphohistiocytosis associated with EBV (EBV-HLH group) were included. The differences between the groups were retrospectively analyzed and regression analysis was performed. The proximity matching method was selected for 1:4 matching between the EBV-HLH group and the IM group. The forest plot prediction model was established based on Lasso regression to analyze the clinical differences between the IM group and the EBV-HLH group. Lasso regression model screening identified hemoglobin (HB), ferritin (FER), fibrinogen (FIB) and CD3 + CD4 + as hexhibiting good predictive value for EBV-HLH, with areas under the receiver operating characteristic (ROC) curve of 0.904, 0.973, 0.866 and 0.783, and specificities of 0.799, 0.965, 0.802 and 0.892, respectively. The prediction model constructed using HB, FER, FIB, and CD3 + CD4 + showed excellent predictive accuracy. With an optimal cut-off value of F = 56.95, the model achieved a sensitivity of 95.30% and a specificity of 99.70%. The early diagnosis of EBV-HLH lacks specific indicators. In this study, a predictive model for EBV-HLH was established using LASSO regression, incorporating four key parameters (HB, FER, FIB, and CD3 + CD4 + T-cell subsets). This model may serve as a screening tool for the early diagnosis of EBV-HLH and provide a diagnostic basis for clinical practice. Not applicable.
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Italian journal of pediatricsLymphoma-Associated Hemophagocytic Syndrome (LAHS) Masquerading as Severe Sepsis and Septic Shock.
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Annals of medicine and surgery (2012)A Rare Fatal Case of Hemophagocytic Lymphohistiocytosis With Central Pontine Myelinolysis in the Setting of Epstein-Barr Virus Reactivation.
CureusClinical characteristics, risk factors and predictors of Parvovirus B19 infection in patients with autoimmune rheumatic inflammatory diseases: A nested case-control study.
Clinical immunology (Orlando, Fla.)Haemophagocytic lymphohistiocytosis (HLH) secondary to measles in an adult with a loss of post-vaccination humoral immunity following rituximab.
The Lancet. Infectious diseasesSecondary haemophagocytic lymphohistiocytosis associated with acute viral hepatitis A - A case series.
Tropical doctorHemophagocytic lymphohistiocytosis in people living with HIV-a single centre experience.
InfectionFatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report.
Frontiers in immunologyExpert Perspective: Diagnosis and Treatment of Castleman Disease.
Arthritis & rheumatology (Hoboken, N.J.)Bilateral sino-nasal-orbital fungal necrosis associated with hemophagocytic lymphohistiocytosis.
Orbit (Amsterdam, Netherlands)Ocrelizumab-Induced Hemophagocytic Lymphohistiocytosis: A Case Report.
CureusThe pathophysiology of hemophagocytic lympho-histiocytosis (HLH) syndrome and insights from animal models.
Clinical and experimental immunologyClinical features, course, and risk factors of infection-associated secondary hemophagocytic lymphohistiocytosis.
InfectionDouble Trouble: Hemophagocytic Lymphohistiocytosis in a Recent COVID-19 Infection Associated With Epstein-Barr Virus (EBV) Reactivation.
CureusWhole-genome sequencing reveals genetic backgrounds in Japanese patients with hemophagocytic lymphohistiocytosis treated with the HLH-2004 protocol.
International journal of hematologyHematopoietic cell transplantation in pediatric EB virus-associated hemophagocytic lymphohistiocytosis.
International journal of hematologySevere Dengue Associated With Hemophagocytic Lymphohistiocytosis (HLH) in an Adult ICU.
CureusEmerging visceral leishmaniasis patients in mid Southern Himalayan region: A public health concern.
Journal of vector borne diseasesSecondary hemophagocytic lymphohistiocytosis in a 5-month-old infant with IBD post-COVID-19: a case report.
Frontiers in pediatricsEpstein-Barr virus infection plays a crucial role in triggering hemophagocytic lymphohistiocytosis in patients with X-linked inhibitor of apoptosis protein deficiency.
Hematology (Amsterdam, Netherlands)[Successful intensive treatment for severe fever with thrombocytopenia syndrome complicated by virus-associated hemophagocytic syndrome in a very elderly patient].
[Rinsho ketsueki] The Japanese journal of clinical hematologyLate presentation of X-linked inhibitor of apoptosis (XIAP) deficiency in a young adult.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyIntegration of anti-PD-1 antibody into chemotherapeutic regimens improved the outcome of aggressive NK cell leukemia: a single-center retrospective real-world analysis.
Frontiers in immunologySystemic EBV+ T-Cell Lymphoma of Childhood with Hemophagocytic Lymphohistiocytosis in a Patient with a Highly Complex Karyotype.
GenesHuman Immune Responses to Epstein-Barr Virus Highlighted by Immunodeficiencies.
Annual review of immunologyPropylthiouracil-induced ANCA-associated vasculitis complicated by granulocytopenia and hemophagocytosis: a case report.
Frontiers in medicineThe lncRNA LINC02446 promotes tumor progression and HLH occurrence by regulating the expression of KLRs and IL-10 in EBV-NK-LPDs.
International immunopharmacologyEpstein-Barr virus infection and prognosis in haemophagocytic lymphohistiocytosis patients with underlying rheumatic diseases: a single-centre retrospective study.
Clinical and experimental rheumatology[A case of hepatitis-associated aplastic anemia complicated by hemophagocytic lymphohistiocytosis and literature review].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsManagement Challenge of Coexistence of Macrophage Activation Syndrome, Systemic Lupus Erythematosus, and Hepatitis B: Case Report.
Clinical case reportsSalvage HLA-haploidentical Peripheral Blood Stem Cell Transplantation Using Post-transplant Cyclophosphamide for Recurrent Hemophagocytic Lymphohistiocytosis-associated Graft Failure after Cord Blood Transplantations.
Internal medicine (Tokyo, Japan)Study on ferritin and liver injury in pediatric hemophagocytic lymphohistiocytosis associated with infection.
Scientific reportsLess frequent complications following CAR T-cell therapies: hemophagocytic lymphohistiocytosis, graft-versus-host disease, thrombotic microangiopathy, coagulation disorders and secondary malignancies: best practice recommendations from the EBMT Practice Harmonization and Guidelines Committee.
Bone marrow transplantationUnprecedented case of rapid-onset autoimmune hepatitis triggered by COVID-19 mRNA vaccination, complicated by concurrent severe hemophagocytic lymphohistiocytosis and acute liver failure in a previously healthy adult: a multidisciplinary approach and review of therapeutic interventions.
Clinical journal of gastroenterologyCytokine Storms in COVID-19, Hemophagocytic Lymphohistiocytosis, and CAR-T Therapy.
JAMA network openSevere pneumonia caused by Chlamydia abortus complicated by hemophagocytic syndrome: a case report.
Frontiers in medicineSuccessful treatment of hemophagocytic lymphohistiocytosis in a trauma patient: a case report.
Journal of trauma and injuryCase Report: A novel IKBKB variant (c.1705G>T) is associated with immune dysregulation and disseminated tuberculosis.
Frontiers in immunologyChronic Hepatitis and Hemophagocytic Lymphohistiocytosis Associated With Systemic Chronic Active Epstein-Barr Virus Disease.
ACG case reports journalHemophagocytic Lymphohistiocytosis with Predominant T-Lymphocytes in Young Child: An Unusual Presentation of Evolving Acute Myeloid Leukemia.
Journal of clinical medicineClinicopathological Prognostic Model for Survival in Adult Patients With Secondary Hemophagocytic Lymphohistiocytosis.
European journal of haematologyHemophagocytic Lymphohistiocytosis Secondary to Dengue Fever.
European journal of case reports in internal medicineDevelopment and validation of a predictive model for diagnosing EBER-positive lymphoma-associated hemophagocytic lymphohistiocytosis.
BMC cancerPeripartum COVID-19 & hemophagocytic lymphohistiocytosis: a case report.
Case reports in perinatal medicineHigh Epstein-Barr Virus DNA Load in T Cells Predicts Hemophagocytic Lymphohistiocytosis.
The Journal of infectious diseasesHistoplasmosis - More common than we realize.
IDCasesSevere dengue, aneurysmal sub-arachnoid hemorrhage, and hemophagocytic lymphohistiocytosis: a rare case combination.
Einstein (Sao Paulo, Brazil)Secondary Hemophagocytic Lymphohistiocytosis in severe COVID-19 - a retrospective cohort study.
Scientific reportsConcurrent hemophagocytic lymphohistiocytosis and thrombotic microangiopathy in a patient with Epstein-Barr virus infection and gastric adenocarcinoma: the puzzle started with microangiopathic hemolytic anemia.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisClinical characteristics and prognostic factors in patients with fever of unknown origin who developed secondary haemophagocytic lymphohistiocytosis.
Annals of hematologySignificance of whole-blood EBV DNA status in T/NK-cell lymphoma-associated hemophagocytic lymphohistiocytosis: a single-center retrospective analysis.
Therapeutic advances in hematologyHaemophagocytic lymphohistiocytosis (HLH) secondary to diffuse large B-cell lymphoma: uncommon complication of a common disease.
BMJ case reportsAn Unusual Case of Extracavitary/Solid Variant Primary Effusion Lymphoma With Associated Hemophagocytic Lymphohistiocytosis.
Journal of medical casesEarly identification of macrophage activation syndrome in adult-onset Still's disease: a case report and literature review.
Frontiers in medicineHuman inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study.
Frontiers in immunologyProteomic Analyses in COVID-19-Associated Secondary Hemophagocytic Lymphohistiocytosis.
Critical care explorationsThe ability of CD4dimCD8+ T cells to distinguish between Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis and pediatric infectious mononucleosis.
Immunologic researchCardiovascular complications in chronic active Epstein-Barr virus disease: a case report and literature review.
Frontiers in pediatricsPeripheral Axonal Neuropathy in Hemophagocytic Lymphohistiocytosis Secondary to Rickettsia conorii Infection.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Unraveling the complexities: A comprehensive review of severe fever with thrombocytopenia syndrome and its associated complications.
- Epstein-Barr virus infection in children with liver transplantation.
- The features and prognosis analysis of central nervous system Epstein-Barr virus infection in children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
- Prognostic Value of Laboratory Biomarkers in Risk Stratification for Short-Term Outcomes in Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis.
- Construction of a forest plot prediction model based on Lasso regression for Epstein-Barr virus associated hemophagocytic lymphohistiocytosis in children.
- A Rare Case of Secondary/Acquired Hemophagocytic Lymphohistiocytosis due to Epstein-Barr Virus Presenting with Neuropsychiatric Features.
- Successful Management of Suspected Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis in BRAF-Mutant Cholangiocarcinoma Following Treatment With Immune Checkpoint Inhibitors and BRAF/MEK Inhibitors: A Case Report.
- The Paucity of Typical Pathology: An Autopsy Series of Typhus Group Rickettsiosis-Associated Hemophagocytic Lymphohistiocytosis.
- A 70-Year-Old Woman Receiving Immunosuppressive Therapy Presenting With Iliopsoas Abscess, Pulmonary Miliary Tuberculosis, and Secondary Hemophagocytic Lymphohistiocytosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:158048(Orphanet)
- Busca completa no PubMed(PubMed)
- Q55785537(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
