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1.
Arch. argent. pediatr ; 122(5): e202310293, oct. 2024. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1571603

ABSTRACT

La linfohistiocitosis hemofagocítica (LHH) es una entidad rara que se caracteriza por un estado hiperinflamatorio secundario a la activación desregulada del sistema inmune con compromiso multisistémico. Puede ser primaria o hereditaria, o estar desencadenada por diversas enfermedades. La mortalidad sin tratamiento oportuno es del 50 % de los casos. Se presenta el caso de una paciente de 1 año y 8 meses con diagnóstico reciente de infección por virus de inmunodeficiencia humana en estadio sida. Cursó internación para estudio e inicio de tratamiento antirretroviral durante la cual presentó múltiples intercurrencias infectológicas e inmunológicas. Se destacan dos episodios de linfohistiocitosis hemofagocítica en contexto de inmunodeficiencia adquirida no controlada y coinfecciones oportunistas. El objetivo de este reporte es destacar la importancia de la sospecha de LHH para un diagnóstico y tratamiento pertinente


Hemophagocytic lymphohistiocytosis (HLH) is a rare condition characterized by a hyperinflammatory state secondary to dysregulated immune activity with multisystem involvement. HLH may be primary or hereditary, or triggered by various diseases. Mortality without a timely treatment reaches 50% of the cases. Here we describe the case of a 1-year and 8-month-old female patient with a recent diagnosis of human immunodeficiency virus infection in the AIDS stage. She was hospitalized for assessment and initiation of antiretroviral therapy during which she developed multiple intercurrent infectious and immune conditions. Two episodes of hemophagocytic lymphohistiocytosis in the setting of uncontrolled acquired immunodeficiency and opportunistic co-infections stand out. The objective of this case report is to highlight the importance of suspecting HLH for a relevant diagnosis and treatment.


Subject(s)
Humans , Female , Infant , HIV Infections/complications , HIV Infections/drug therapy , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/etiology , Coinfection , AIDS-Related Opportunistic Infections/diagnosis
3.
Chinese Journal of Hematology ; (12): 128-133, 2022.
Article in Chinese | WPRIM | ID: wpr-929544

ABSTRACT

Objective: To explore the clinical characteristics and outcomes of patients with non-Epstein-Barr virus (EBV) infection-associated hemophagocytic lymphohistiocytosis (IAHLH) . Methods: Clinical data of 48 patients diagnosed with non-EBV IAHLH in Beijing Friendship Hospital from January 2015 to March 2021 were collected, and the clinical characteristics, treatment, curative effect and prognosis of the patients were analyzed retrospectively. Results: This study included 48 patients, 28 males and 20 females, with a median (range) age of 34.5 (2-74) years. Pathogens that cause IAHLH were as follows: virus (16 cases, 33.3%) , bacteria (17 cases, 35.4%) , parasitic agents (13 cases, 27.1%) , and fungi (2 cases, 4.2%) . The median time from onset to diagnosis of hemophagocytic syndrome (HLH) was 40 (10-160) days. The median (range) time duration from prodrome to the definite diagnosis of IAHLH was 67 (23-270) days. The clinical characteristics were fever (48 cases, 100%) , splenomegaly (34 cases, 70.8%) , cytopenia (38 cases, 79.1%) , elevated ferritin (45 cases, 93.8%) , elevated fasting triglyceride levels (7 cases, 14.6%) , hypofibrinogenemia (17 cases, 35.4%) , decrease natural killer cell activity (26 in 44 cases, 59.1%) , and elevated sCD25 (35 cases, 74.5%) . Twenty-five patients (52.1%) had adenopathy. Once a certain pathogen was identified as the causative factor of hemophagocytic lymphohistiocytosis (HLH) , cytotoxic agents and glucocorticoids were withdrawn, and specific pathogen-directed treatment was initiated. After treatment, 36 cases (75.0%) achieved complete response, and 14 of 15 patients (93.3%) with parasitic and fungal HLH got a response; however, the response rate of patient with bacterial and viral HLH was only 66.7% (22 of 33 patients) . The estimated 5-year overall survival rate was 72.3% (95%CI 50.3%-69.8%) . The adverse prognostic factors were total bilirubin over the upper limit of normal (OR=20.0, 95%CI 1.1-378.3, P=0.046) and pathogenic infection not fully controlled (OR=19.9, 95%CI 2.9-134.5, P=0.002) . Conclusion: Non-EBV IAHLH has a good prognosis. When diagnosed, cytotoxic agents and glucocorticoids should be tapered off, and pathogen-targeted therapy should be critically administered to clear the triggering infection.


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Epstein-Barr Virus Infections/complications , Herpesvirus 4, Human , Lymphohistiocytosis, Hemophagocytic/diagnosis , Prognosis , Retrospective Studies
4.
Rev. chil. infectol ; Rev. chil. infectol;38(3): 423-431, jun. 2021. ilus, tab
Article in Spanish | LILACS | ID: biblio-1388244

ABSTRACT

INTRODUCCIÓN: La linfohistiocitosis hemofagocítica (HLH en inglés) es un síndrome clínico grave, potencialmente fatal, caracterizado por una activación patológica del sistema inmune y una respuesta hiperinflamatoria extrema. Según su etiología se clasifica en primario (genético o familiar) y secundario (gatillado por causas infecciosas, oncológicas o reumatológicas). OBJETIVOS: Describir y analizar las características clínicas y laboratorio, tratamiento recibido y seguimiento en pacientes pediátricos con diagnóstico de HLH. PACIENTES Y MÉTODOS: Se describió una cohorte pediátrica en pacientes hospitalizados con diagnóstico de HLH en un centro terciario universitario entre enero de 2000 y febrero de 2019. RESULTADOS: Se reclutaron 23 pacientes pediátricos con una mediana de edad de 36 meses. Los hallazgos clínicos y de laboratorio más frecuentes fueron fiebre, citopenias e hiperferritinemia. La etiología más frecuente fue infecciosa (virus Epstein Barr/citomegalovirus) e inmunológica/reumatológica. La mortalidad global fue de 35%, sin diferencias significativas según etiología. DISCUSIÓN: Dada su alta mortalidad es relevante un alto índice de sospecha que permita instaurar terapia de forma precoz. Son necesarios estudios multicéntricos para determinar predictores clínicos y de laboratorio con valor pronóstico.


BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a severe syndrome, potentially lethal, with a pathological activation of the immune system and an extreme hyperinflammatory response. The etiology is classified in primary HLH (familiar or genetic) and secondary (infectious, oncological, and rheumatological diseases). AIM: To analyze clinical and laboratory characteristics, treatment, and follow-up rates in pediatric patients with HLH. METHODS: A pediatric cohort of patients with HLH diagnosis attending in a tertiary hospital between January 2000 to February 2019 was analysed. RESULTS: 23 hospitalized patients were recruited with a median of 36 months of age. The most frequent clinical and laboratory findings were fever, cytopenias, and hyperferritinemia. The most frequent aetiologies were infectious (Epstein Barr virus and citomegalovirus) and rheumatological diseases. The global mortality was 35%, there was no significant difference between etiologies. DISCUSSION: Considering the high mortality of HLH it is very important to have a high grade of suspicion that allows treating at an early stage. It would be important to determine clinical and laboratory predictors in multicentric studies.


Subject(s)
Humans , Male , Female , Child , Epstein-Barr Virus Infections , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/etiology , Follow-Up Studies , Herpesvirus 4, Human , Tertiary Care Centers
5.
Rev. chil. infectol ; Rev. chil. infectol;38(2): 271-278, abr. 2021. ilus
Article in Spanish | LILACS | ID: biblio-1388230

ABSTRACT

INTRODUCCIÓN: La liberación excesiva de citoquinas en COVID-19 grave se asemeja a la linfohistiocitosis hemofagocítica secundaria (sHLH). OBJETIVO: Comparar las características clínicas y de laboratorio entre sHLH y el síndrome de liberación de citoquinas (CRS) en COVID-19. MÉTODOS: Se realizó una revisión de artículos en la base de datos PubMed, a través de las siguientes palabras clave "HLH and COVID", "HScore in COVID". Se incluyeron las publicaciones disponibles hasta el 16 julio 2020. RESULTADOS: Se elaboró un cuadro comparativo basado en los criterios diagnósticos del protocolo HLH 2004, HScore y características del CRS-COVID-19. Se utilizaron 18 variables para la comparación. DISCUSIÓN: El CRS en COVID-19 grave presenta similitud con el CRS del sHLH; sin embargo, no se puede afirmar que se traten de la misma entidad. Los reportes de sHLH en COVID-19 son escasos. HScore es una herramienta que podría orientar el diagnóstico de HLH secundario a COVID-19 de una manera más práctica que los criterios HLH-2004; sin embargo, su aplicación en COVID-19 se encuentra limitada debido a la ausencia de características claves del estado hiperinflamatorio de COVID-19 que sí destacan en HLH. CONCLUSIONES: El CRS-COVID-19 no es sinónimo de sHLH. Aunque esta última entidad podría o no estar presente en COVID-19 grave.


BACKGROUND: Excessive release of cytokines in severe COVID-19 resembles secondary hemophagocytic lymphohistiocytosis (sHLH). AIM: To compare the clinical and laboratory characteristics between sHLH and cytokine release syndrome (CRS) in COVID-19. METHODS: A review of articles in the PubMed database was performed, using the following keywords "HLH and COVID", "HScore in COVID". Articles available until July 16, 2020 were included. RESULTS: A comparative table was prepared based on the diagnostic criteria of the HLH 2004 protocol, HScore and characteristics of the CRS-COVID-19. Eighteen variables are used for comparison. DISCUSSION: The CRS in COVID-19 presented similarity with the CRS of sHLH; however, it cannot be stated that they are the same entity. Case reports of sHLH in COVID-19 are small. HScore is a tool that could guide the diagnosis of sHLH in the context of CRS-COVID-19, in a more practical way than the classic criteria described in HLH-2004; however, its application in COVID-19 is limited due to the absence of key features of the hyperinflammatory state of COVID-19 that are included in HLH. CONCLUSIONS: CRS-COVID-19 is not synonymous with sHLH. Although this last entity may or may not be present in the severe COVID-19.


Subject(s)
Humans , Lymphohistiocytosis, Hemophagocytic/diagnosis , COVID-19 , Cytokine Release Syndrome , SARS-CoV-2
6.
Article in Chinese | WPRIM | ID: wpr-880063

ABSTRACT

OBJECTIVE@#To present one patient initially diagnosed with dermatomyositis(DM) who was eventually revealed to be diffuse large B-cell lymphoma(DLBCL) complicated with hemophagocytic syndrome(HPS), and to improve the understanding of the disease.@*METHODS@#The clinical characteristics, diagnostic approach, treatment of the patient were retrospectively analyzed, and some related literatures were reviewed.@*RESULTS@#A 52-year-old female patient suffered from muscle weakness, elevated serum creatine kinase activity, electromyography changes and characteristic skin rashes and diagnosed as DM. The patient was treated with glucocorticoid therapy and the muscle strength, skin rashes, and creatine kinas index turns into remission. Subsequently, subcutaneous nodules appeared during treatment, and the patient was confirmed as DLBCL based on pathological biopsy; And the patient was considered HPS because of presenting with repeated fever, splenomegaly, cytopenias, hypofibrinogenemia, hypertriglyceridemia, hyperferritinemia, high levels of sCD25, low NK-cell activity and hemophagocytosis in bone marrow. But the patient refused chemotherapy, and only treated with "DXM+VP-16" to control hemophagocytic syndrome, and unfortunately died due to the disease progression.@*CONCLUSION@#Cutaneous involvement in diffuse large B-cell lymphoma and hemophagocytic syndrome patients with first presentation of dermatomyositis is relatively rare. Malignacy screening should be performed as soon as possible after newly diagnosed DM, so that the patient can get early diagnosis and effective treatment to improve survival rate.


Subject(s)
Female , Humans , Middle Aged , Dermatomyositis/complications , Etoposide , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphoma, Large B-Cell, Diffuse/complications , Retrospective Studies
7.
Article in English, Portuguese | LILACS, SES-SP | ID: biblio-1136755

ABSTRACT

ABSTRACT Objective: To describe the case of a child who presented hemophagocytic lymphohistiocytosis (HLH) associated with acute monocytic leukemia after chemotherapy, with hemophagocytosis caused by leukemic cells. Case description: In a university hospital in Southern Brazil, a 3-year-old female was diagnosed with acute monocytic leukemia with normal karyotype. The chemotherapy regimen was initiated, and she achieved complete remission six months later, relapsing after four months with a complex karyotype involving chromosomes 8p and 16q. The bone marrow showed vacuolated blasts with a monocytic aspect and evidence of hemophagocytosis. The child presented progressive clinical deterioration and died two months after the relapse. Comments: HLH is a rare and aggressive inflammatory condition characterized by cytopenias, hepatosplenomegaly, fever, and hemophagocytosis in the bone marrow, lymph nodes, spleen, and liver. Although rare, malignancy-associated HLH (M-HLH) is fatal. The patient in this case report met five out of the eight established criteria for HLH. The evolution of the patient's karyotype, regardless of the diagnostic profile, seemed secondary to the treatment for acute monocytic leukemia. In this case, the cytogenetic instability might have influenced the abnormal behavior of leukemic cells. This is a rare case of HLH in a child with acute monocytic leukemia.


RESUMO Objetivo: Descrever um caso de um paciente pediátrico que apresentou linfo-histiocitose hemofagocítica (LHH) associada à leucemia monocítica aguda pós-quimioterapia, com hemofagocitose causada pelas próprias células leucêmicas. Descrição do caso: Em um hospital universitário do Sul do Brasil, uma menina de três anos foi diagnosticada com leucemia monocítica aguda com cariótipo normal. Após receber protocolo quimioterápico, atingiu remissão seis meses depois do início do tratamento, recaíndo quatro meses após com um cariótipo complexo envolvendo ambos os cromossomos, 8p e 16q. A medula óssea mostrava-se infiltrada por células blásticas vacuolizadas com aspecto monocítico, com evidências de hemofagocitose. A criança apresentou um declínio clínico progressivo e dois meses após a recaída foi a óbito. Comentários: A LHH é uma condição inflamatória rara e agressiva caracterizada por citopenias, hepatoesplenomegalia, febre e hemofagocitose na medula óssea, linfonodos, baço e fígado. A LHH associada a doenças malignas, embora seja uma condição rara, é potencialmente fatal. A paciente deste caso apresentou cinco dos oito critérios estabelecidos para o diagnóstico de LHH. A evolução do cariótipo do paciente, independentemente do perfil do diagnóstico, pareceu ser secundária ao tratamento da leucemia monocítica aguda, sendo que a instabilidade citogenética pode ter influenciado o comportamento atípico observado nas células leucêmicas. Este é um dos raros casos de LHH em uma criança com leucemia monocítica aguda.


Subject(s)
Humans , Female , Child, Preschool , Antineoplastic Combined Chemotherapy Protocols/adverse effects , Leukemia, Monocytic, Acute/drug therapy , Lymphohistiocytosis, Hemophagocytic/etiology , Brazil , Leukemia, Monocytic, Acute/diagnosis , Leukemia, Monocytic, Acute/genetics , Leukemia, Monocytic, Acute/pathology , Fatal Outcome , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/immunology , Lymphohistiocytosis, Hemophagocytic/pathology
8.
Rev. chil. reumatol ; 37(1): 18-22, 2021. tab
Article in Spanish | LILACS | ID: biblio-1400374

ABSTRACT

El síndrome de activación macrofágica (SAM) presenta criterios clínicos y de laboratorio establecidos. Presentamos el caso de un adolescente varón con debut de Lupus eritematoso generalizado pediátrico grave, donde su manifestación principal fue un SAM y el receptor de interleucina 2 soluble en suero (IL-2rs) o CD25 soluble (CD25s) aumentado resultó clave en la confirmación diagnóstica, en el tratamiento y pronóstico de su enfermedad. Sin embargo, este receptor de citocinas no se mide habitualmente en la práctica clínica.


Macrophage activation syndrome (MAS) presents established clinical and laboratory criteria. We present the case of a male adolescent with the onset of severe pediatric systemic Lupus erythematosus, manifested mainly by MAS and how a laboratory marker, serum soluble interleukin-2 receptor (IL-2rs) or altered soluble CD25(CD25s), played a key role in treatment and prognosis of the disease. However, this cytokine receptor is rarely measured in clinical practice.


Subject(s)
Humans , Male , Child , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/therapy , Macrophage Activation Syndrome/diagnosis , Macrophage Activation Syndrome/therapy , Thorax/diagnostic imaging , Radiography, Thoracic/methods , Receptors, Interleukin-2 , Macrophage Activation Syndrome/pathology , Lupus Erythematosus, Systemic
10.
Rev. pediatr. electrón ; 17(4): 24-28, dic. 2020.
Article in Spanish | LILACS | ID: biblio-1369249

ABSTRACT

INTRODUCCIÓN: La linfohistiocitosis hemofagocitica (HLH) secundario está asociada a enfermedades malignas, genéticas o autoinmunes, pero también a infecciones principalmente EBV hasta en un 70%, sin embargo hay poca información. Esta entidad se caracteriza por un curso variable y recurrente que conlleva a una alta morbimortalidad con complicaciones potencialmente mortales. OBJETIVO: Describir las características clínicas y evolución de los pacientes pediátricos con diagnóstico de HLH secundario a CAEBV. RESULTADOS: Se incluyeron 7 pacientes, edad media al diagnóstico fue 52 meses con predilección al sexo masculino. Todos los pacientes fueron tratados con un régimen quimioterapéutico multiagente, que incluye corticosteroide, etopósido y Ciclosporina. Después del tratamiento 6 pacientes presentaron remisión y uno de ellos reactivación. La media de seguimiento fue 19 meses y la supervivencia libre de enfermedad (SLE) 16 meses. CONCLUSIÓN: Podemos observar que el curso clínico es variable en ocasiones fulminantes y con pobre respuesta al tratamiento. Un diagnóstico temprano, así como detectar los factores pronóstico podría ayudar a adaptar estrategias de tratamiento que cambiaría la evolución clínica.


INTRODUCTION: Secondary hemophagocytic lymphohistiocytosis (HLH) is associated with malignant, genetic or autoimmune diseases but also with infections mainly EBV in up to 70%, however there is little information. This entity is characterized by a variable and recurrent course that leads to high morbidty and mortality with life-threatening complications. OBJECTIVE: To describe the clinical characteristics and evolution of pediatric patients with a diagnosis of HLH secondary to CAEBV. RESULTS: 7 patients were included, mean age at diagnosis was 52 months with a predilection for males. All patients were treated with a multiagent chemotherapeutic regimen, including corticosteroid, etoposide, and cyclosporine. After treatment, 6 patients presented remission and one of them had reactivation. The mean follow-up was 19 months and disease-free survival (DFS) 16 months. CONCLUSION: We can observe that the clinical course is variable, sometimes fulminant and with poor response to treatment. An early diagnosis as well as detecting prognostic factors could help to adapt treatment strategies that would change the clinical course.


Subject(s)
Humans , Male , Female , Child , Epstein-Barr Virus Infections/complications , Lymphohistiocytosis, Hemophagocytic/etiology , Cyclosporine/therapeutic use , Adrenal Cortex Hormones/therapeutic use , Disease-Free Survival , Drug Therapy, Combination , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/drug therapy , Etoposide/therapeutic use , Hospitals, Pediatric
11.
Bol. méd. Hosp. Infant. Méx ; 77(4): 207-211, Jul.-Aug. 2020. tab, graf
Article in English | LILACS | ID: biblio-1131978

ABSTRACT

Abstract Background: Hemophagocytic lymphohistiocytosis (HLH) is considered a medical emergency that should be recognized in patients with fever, splenomegaly, and progressive deterioration of the general condition. Laboratory findings include cytopenia, hypertriglyceridemia, hypofibrinogenemia, and hyperferritinemia. For HLH diagnosis, it is essential, although not mandatory, to perform a bone marrow biopsy. Given its nature, secondary causes of HLH should be sought, mainly infections, hemato-oncological disorders, autoimmune diseases, and auto-inflammatory conditions. Case report: We present the case of a female adolescent who presented with fever and lower gastrointestinal bleeding. Upon admission, acute liver failure and pancytopenia were documented. A bone marrow aspirate was performed, which revealed hemophagocytosis; other tests confirmed HLH diagnosis. During the diagnostic approach, inflammatory bowel disease was diagnosed. The patient received first-line treatment with an adequate response. Conclusions: Inflammatory bowel disease can be considered a cause of secondary HLH, particularly in patients with suggestive symptoms, such as digestive bleeding in the absence of other secondary causes of HLH.


Resumen Introducción: La linfohistiocitosis hemofagocítica (LHH) es considerada una urgencia médica que debe reconocerse en pacientes con deterioro progresivo del estado general, fiebre, pancitopenia y esplenomegalia. Los hallazgos de laboratorio incluyen citopenia, hipertrigliceridemia, hipofibrinogenemia e hiperferritinemia. Para su diagnóstico es importante, aunque no obligatoria, la realización de aspirado de médula ósea. Dada su naturaleza, se deben buscar causas secundarias de LHH, principalmente enfermedades infecciosas, hematooncológicas, autoinmunitarias y autoinflamatorias. Caso clínico: Se presenta el caso de una adolescente que inició con fiebre y sangrado digestivo bajo. A su ingreso, se documentó falla hepática aguda y pancitopenia. Se realizó aspirado de médula ósea y se encontró hemofagocitocis; el resto de los exámenes concluyeron LHH. Durante su abordaje se diagnosticó enfermedad inflamatoria intestinal. La paciente recibió tratamiento de primera línea con adecuada respuesta. Conclusiones: La enfermedad inflamatoria intestinal puede considerarse como una causa secundaria de LHH, en particular en pacientes con clínica sugestiva, como es el sangrado digestivo, en ausencia de otras causas secundarias de LHH.


Subject(s)
Adolescent , Female , Humans , Colitis, Ulcerative/complications , Lymphohistiocytosis, Hemophagocytic/etiology , Pancytopenia/diagnosis , Bone Marrow Examination , Inflammatory Bowel Diseases/complications , Colitis, Ulcerative/diagnosis , Colitis, Ulcerative/drug therapy , Liver Failure, Acute/diagnosis , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/therapy
12.
Arch. argent. pediatr ; 118(2): e174-e177, abr. 2020.
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1100429

ABSTRACT

La linfohistiocitosis hemofagocítica (LHH) puede ser primaria (hereditaria) o secundaria a infecciones, tumores malignos, trastornos reumatológicos, síndromes de inmunodeficiencia y metabolopatías. Se informaron casos de intolerancia a la proteína lisinúrica, deficiencia de múltiples sulfatasas, galactosemia, enfermedad de Gaucher, síndrome de Pearson y galactosialidosis. No se sabe cómo se desencadena la LHH en las metabolopatías. Se diagnosticó LHH en un lactante de 2 meses con letargo, palidez, alimentación deficiente, hepatoesplenomegalia, fiebre y pancitopenia, y se instauró el protocolo HLH-2004. Se realizaron, en conjunto, análisis para detectar mutaciones genéticas y pruebas metabólicas; los resultados fueron negativos para las mutaciones genéticas de LHH primaria, pero se detectaron hiperamoniemia y concentración elevada de metilcitrato. Se diagnosticó acidemia propiónica. Aquí informamos sobre un caso de LHH secundaria a acidemia propiónica. Es posible la realización simultánea de pruebas de detección de trastornos metabólicos y de mutaciones genéticas para el diagnóstico temprano en los lactantes con LHH


Hemophagocytic lymphohystiocytosis (HLH) may be primary (inherited/familial) or secondary to infections, malignancies, rheumatologic disorders, immune deficiency syndromes and metabolic diseases. Cases including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis have previously been reported. It is unclear how the metabolites trigger HLH in metabolic diseases. A 2-month-old infant with lethargy, pallor, poor feeding, hepatosplenomegaly, fever and pancytopenia, was diagnosed with HLH and the HLH-2004 treatment protocol was initiated. Analysis for primary HLH gene mutations and metabolic screening tests were performed together; primary HLH gene mutations were negative, but hyperammonemia and elevated methyl citrate were detected. Propionic acidemia was diagnosed with tandem mass spectrometry in neonatal dried blood spot. We report this case of HLH secondary to propionic acidemia. Both metabolic disorder screening tests and gene mutation analysis may be performed simultaneously especially for early diagnosis in infants presenting with HLH.


Subject(s)
Humans , Male , Infant , Lymphohistiocytosis, Hemophagocytic/diagnosis , Propionic Acidemia/diagnosis , Pancytopenia , Splenomegaly , Lymphohistiocytosis, Hemophagocytic/drug therapy , Propionic Acidemia/drug therapy , Torpor , Continuous Renal Replacement Therapy , Hepatomegaly
13.
Rev. cuba. hematol. inmunol. hemoter ; 36(1): e1048, ene.-mar. 2020. tab, graf
Article in Spanish | CUMED, LILACS | ID: biblio-1126547

ABSTRACT

Introducción: La evidencia actual sobre el síndrome de linfohistiocitosis hemofagocítica se basa en series de casos y, por tanto, las decisiones clínicas se fundamentan en el criterio de expertos. En Cuba son escasos los informes publicados, lo cual valida los esfuerzos que incrementen la comprensión de esta entidad en nuestro medio. Objetivo: Describir tres casos de síndrome de linfohistiocitosis hemofagocítica secundaria, una complicación extremadamente infrecuente y poco sospechada. Casos clínicos: De los tres pacientes estudiados, dos presentaron linfoma como enfermedad subyacente. A uno de ellos se le diagnosticó un linfoma no Hodgkin de células T anaplásico en la necropsia; mientras el otro paciente fue diagnosticado y tratado precozmente por linfoma no Hodgkin de células grandes B, el cual evolucionó satisfactoriamente. El tercer paciente presentó endocarditis de valva tricúspide y alcanzó la remisión luego de tratamiento antibiótico, inmunomodulador y quirúrgico. Conclusiones: Los casos presentados destacan la complejidad del síndrome de linfohistiocitosis hemofagocítica y refuerzan la necesidad crítica de su diagnóstico y tratamiento oportuno en nuestro medio(AU)


Introduction: The current evidence about hemophagocytic lymphohistiocytosis syndrome is based on case series and, therefore, clinical decisions are based on expert criteria. In Cuba, there are few published reports, which validates the efforts that may increase understanding of this entity in our environment. Objective: To describe three cases of secondary hemophagocytic lymphohistiocytosis syndrome, an extremely rare and little suspected complication. Clinical cases: Of the three patients studied, two presented lymphoma as subjacent disease. One of them was diagnosed with anaplastic T-cell non-Hodgkin lymphoma at autopsy. The other was diagnosed and treated early for large B-cell non-Hodgkin lymphoma, and evolved satisfactorily. The third patient presented tricuspid valve endocarditis and achieved remission after antibiotic, immunomodulatory and surgical treatment. Conclusions: The cases presented highlight the complexity of hemophagocytic lymphohistiocytosis syndrome and reinforce the critical need for diagnosis and timely treatment of this condition in our setting(AU)


Subject(s)
Humans , Middle Aged , Early Diagnosis , Lymphohistiocytosis, Hemophagocytic/complications , Lymphohistiocytosis, Hemophagocytic/diagnosis
14.
J. bras. nefrol ; 42(1): 118-123, Jan.-Mar. 2020. tab, graf
Article in English, Portuguese | LILACS | ID: biblio-1098332

ABSTRACT

ABSTRACT Hemophagocytic syndrome or hemophagocytic lymphohistiocytosis (HLH) is an infrequent and underdiagnosed condition caused by an overactive immune response, resulting in blood cells phagocytosis. After kidney transplantation (KTx), HLH is usually secondary (or reactive) to infectious and neoplastic processes and has a high mortality rate. No effective treatment is available for this condition. Usual procedures include detecting and treating the pathology triggering the immune system dysregulation, other than administration of intravenous human immunoglobulin (IVIG) and high doses of steroids, and plasmapheresis. The best protocol for maintenance immunosuppressive therapy is also unknown. This article presents two cases of post-KTx reactive HLH that underwent adjuvant IVIG treatment and obtained good clinical results. Despite the high morbidity and mortality associated with reactive HLH after KTx, the early and precise diagnosis and the administration of IVIG therapy along with the treatment of the triggering disease, was an effective strategy to control HLH.


RESUMO A síndrome hemofagocítica (SHF) ou linfo-histiocitose hemofagocítica é uma condição infrequente e subdiagnosticada que tem por base a ativação excessiva da resposta imune, resultando em fagocitose das células do sangue. Após o transplante renal (TxR), a SHF é habitualmente secundária (ou reativa) a processos infecciosos e neoplásicos, culminando em elevadas taxas de mortalidade. Não há evidências quanto ao tratamento ideal dessa condição. Além de investigação e tratamento da patologia desencadeante do processo de desregulação do sistema imune, há descrições do uso de imunoglobulina humana (IVIG), esteroides em altas doses e plasmaférese. Não há evidências quanto à melhor forma de delinear a imunossupressão de manutenção. Este artigo apresenta dois casos de SHF reativa pós-TxR que realizaram tratamento adjuvante com IVIG, obtendo bons resultados clínicos. Apesar da elevada morbimortalidade associada à SHF reativa após o TxR, o diagnóstico ágil e preciso, associado à instituição de terapia com IVIG adjuvante ao tratamento da doença desencadeante, foi uma estratégia eficaz em conter o processo.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Kidney Transplantation/adverse effects , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/etiology , Follow-Up Studies , Treatment Outcome , Immunoglobulins, Intravenous/administration & dosage , Adrenal Cortex Hormones/administration & dosage , Fatal Outcome , Lymphohistiocytosis, Hemophagocytic/drug therapy , Immunologic Factors/administration & dosage , Immunosuppressive Agents/administration & dosage , Kidney Failure, Chronic/surgery
15.
Rev. Hosp. Ital. B. Aires (2004) ; 40(1): 25-28, mar. 2020. ilus
Article in Spanish | LILACS | ID: biblio-1102210

ABSTRACT

Introducción: la zigomicosis es una infección fúngica poco frecuente, con alta tasa de mortalidad y de mal pronóstico. Afecta principalmente a pacientes inmunocomprometidos. La asociación con el síndrome hemofagocítico es extremadamente inusual, más aún en pacientes inmunocompetentes, con pocos ejemplos registrados en la literatura. Caso clínico: se presenta el caso de un paciente masculino inmunocompetente de 40 años con diagnóstico de mucormicosis y síndrome hemofagocítico que evoluciona desfavorablemente, con fallo multiorgánico, a pesar de los esfuerzos médicos. Conclusión: la asociación de mucormicosis con síndrome hemofagocítico en un paciente inmunocompetente es extremadamente rara; existen pocos casos informados en Latinoamérica. Debemos tener presente esta asociación, ya que requiere un tratamiento agresivo y soporte vital avanzado. (AU)


Introduction: zygomycosis is a rare fungal infection that carries with high mortality rates. This poor prognosis, rapidly progressive infection mainly affects immunocompromised patients. The association with hemophagocytic lymphohistiocytosis is extremely unusual, even more in immunocompetent patients, with few cases reported. Case: we present the case of an immunocompetent male patient who was diagnosed with zygomycosis and hemophagocytic lymphohistiocytosis. Despite medical efforts he developed multiorganic failure. Conclusion: the association of mucormycosis with hemophagocytic lymphohistiocytosis in an immunocompetent patient is exceptional with few cases reported in Latin America. We must always suspect this association considering they require aggressive treatment and advanced life support. (AU)


Subject(s)
Humans , Male , Adult , Zygomycosis/diagnosis , Lymphohistiocytosis, Hemophagocytic/diagnosis , Pancytopenia/blood , Psychomotor Agitation , Vancomycin/therapeutic use , Norepinephrine/administration & dosage , Norepinephrine/therapeutic use , Amphotericin B/therapeutic use , Exophthalmos/diagnostic imaging , Immunocompromised Host/immunology , Colistin/therapeutic use , Amoxicillin-Potassium Clavulanate Combination/administration & dosage , Amoxicillin-Potassium Clavulanate Combination/therapeutic use , Zygomycosis/etiology , Zygomycosis/mortality , Zygomycosis/epidemiology , Delirium , Lymphohistiocytosis, Hemophagocytic/etiology , Lymphohistiocytosis, Hemophagocytic/mortality , Fever , Meropenem/therapeutic use , Immunocompetence/immunology , Jaundice , Mucormycosis/complications , Multiple Organ Failure/diagnosis
16.
Rev. cuba. pediatr ; 91(1): e490, ene.-mar. 2019. graf
Article in Spanish | LILACS | ID: biblio-985599

ABSTRACT

Introducción: El síndrome hemofagocítico, llamado también linfohistiocitosis hemofagocítica o síndrome de activación macrofágica, es una grave enfermedad que se caracteriza por la activación exagerada del sistema inmune y aumento de la actividad linfocítica citotóxica y macrofágica, que puede ser potencialmente fatal. Objetivo: Describir un caso con este síndrome poco frecuente pero de alta mortalidad. Presentación del caso: Paciente de 10 meses, nacido de parto eutócico, a término, normopeso, con antecedentes de ingreso a los dos meses por sepsis, con aumento de las transaminasas y adenopatías cervicales. Se realizó biopsia del ganglio cervical y se diagnosticó adenitis granulomatosa. En esta ocasión, cuatro días antes del ingreso comenzó con fiebre y decaimiento; al examen físico presentó tiraje intercostal bajo, polipnea superficial, hepatomegalia y esplenomegalia. Exámenes complementarios, presentó anemia, transaminasas, albúmina y proteínas totales elevadas; orina con pigmentos biliares y cuerpos cetónicos positivos; plaquetas 100 x 109. Los especialistas de gastroenterología plantearon una colestasis del lactante. El paciente falleció y en la necropsia se constató una hepatoesplenomegalia, hígado amarillento, adenopatías mesentéricas y peripancreáticas, pulmones hemorrágicos con aumento de consistencia; en el estudio microscópico se encontró en hígado, bazo, médula ósea, y ganglios linfáticos, histiocitos con hemofagocítosis. Conclusiones: El síndrome hemofagocítico es una enfermedad poco frecuente que muchas veces no se sospecha y pasa inadvertido, por lo tanto hay que pensar en dicha entidad porque tiene implicaciones pronósticas graves para el paciente, como puede ser un desenlace fatal(AU)


Introduction: The hemophagocytic syndrome, also called hemophagocyticlymphohistiocytosis or macrophage activation´s syndrome is a serious disease characterized by exaggerated activation of the immune system and increased cytotoxic lymphocytic and macrophage activity, which can be potentially fatal. Objective: To describe a case with this rare syndrome with a high mortality rate, and the diagnosis was made postmortem in our hospital. Case presentation: A 10-month-old patient, born by natural delivery, with normal weight, with a history of admission at 2 months due to sepsis, with increased transaminases levels and cervical adenopathies. A cervical lymph node biopsy was performed, and granulomatous adenitis was diagnosed. On this occasion, four days before admission, he presented fever and weakness; physical examination revealed low intercostals retraction, superficial polypnea, hepatomegaly and splenomegaly. The complementary tests showed anemia, transaminases, albumin and total proteins with high levels; urine had bile pigments and positive ketone bodies; platelets 100 x 109. Gastroenterology specialists set out cholestasis of the infant. The patient died and at necropsy there were evidences of hepato splenomegaly, yellowish liver, mesenteric and peripancreatic adenopathies, hemorrhagic lungs with increased consistency. In the microscopic study, histiocytes with hemophagocytosis were found in liver, spleen, bone marrow, and lymph nodes. Conclusions: The hemophagocytic syndrome is a rare disease that often goes unnoticed. It has serious prognostic implications for the patient with a fatal outcome(AU)


Subject(s)
Humans , Male , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/pathology , Case Reports
17.
J. bras. nefrol ; 40(4): 423-427, Out.-Dec. 2018. graf
Article in English | LILACS | ID: biblio-984587

ABSTRACT

Abstract Hemophagocytic lymphohistiocytosis (HLH) is an uncommon and life-threating condition characterized by major immune activation and massive cytokine production by mononuclear inflammatory cells, due to defects in cytotoxic lymphocyte function. It is even more unusual in renal transplant recipients, in which it is often associated with uncontrolled infection. The mortality is high in HLH and differential diagnosis with sepsis is a challenge. The approach and management depend on the underlying trigger and comorbidities. We report a case of a 50-year-old renal transplant female admitted with fever and malaise 3 months post-transplant and presenting anemia, fever, hypertriglyceridemia, high levels of serum ferritin, and positive CMV antigenemia. Urine was positive for decoy cells and BKV-DNA. Graft biopsy showed CMV nephritis. Both blood and urine cultures where positive for E. coli. Hemophagocytosis was confirmed by bone marrow aspiration. Immunosuppression was reduced, and the patient received high-dose intravenous immunoglobulin and dexamethasone, with complete response after 3 weeks. We highlight the importance of early diagnosis and proper management of a rare and serious condition in a renal transplant patient, which can allow a favorable clinical course and improve survival rate.


Resumo A linfohistiocitose hemofagocítica (LHH) é uma condição incomum e potencialmente fatal, caracterizada por importante ativação imunológica e produção maciça de citocinas por células mononucleares inflamatórias, devido a defeitos na função linfocitária citotóxica. É ainda mais incomum em receptores de transplante renal, nos quais está freqüentemente associada a infecções não controladas. A mortalidade da LHH é alta, e o diagnóstico diferencial com sepse é um desafio. A abordagem e o tratamento dependem do gatilho e das comorbidades subjacentes. Relatamos o caso de uma paciente transplantada renal com 50 anos de idade, admitida com febre e mal-estar 3 meses após o transplante, apresentando anemia, febre, hipertrigliceridemia, níveis elevados de ferritina sérica e antigenemia positiva para CMV. A urina mostrou positividade para células decoy e BKV-DNA. A biopsia do enxerto mostrou nefrite por CMV. Ambas as culturas de sangue e urina foram positivas para E. coli. A hemofagocitose foi confirmada pelo aspirado de medula óssea. A imunossupressão foi reduzida e a paciente recebeu altas doses de imunoglobulina intravenosa e dexametasona, com resposta completa após 3 semanas. Destaca-se a importância do diagnóstico precoce e do manejo adequado de uma condição rara e grave em um paciente transplantado renal, o que pode permitir um curso clínico favorável e melhorar a taxa de sobrevida.


Subject(s)
Humans , Female , Middle Aged , Postoperative Complications/diagnosis , Postoperative Complications/drug therapy , Kidney Transplantation , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/drug therapy
18.
Rev. méd. hondur ; 86(3/4): 134-137, jul.- dic. 2018.
Article in Spanish | LILACS | ID: biblio-1022599

ABSTRACT

Antecedentes. El síndrome hemofagocítico (SH) es un síndrome de activación inmune patológica, infrecuente, subdiag-nosticada, su importancia radica en su gravedad, pues son cuadros muy agresivos que evolucionan en poco tiempo de forma fulmi-nante, con un fallo multiorgánico letal, antes de establecer un diagnóstico. Se encuentran en todos los grupos de edad, pero en gen-eral es más frecuente en los niños. Esta revisión se realizó con el propósito de conocer más a profundidad esta patología, identificar el padecimiento oportunamente y así mismo administrar el tratamiento temprano y adecuado para mejorar la supervivencia del paciente. Métodos: La búsqueda exhaustiva de artículos con menos de 10 años de publicación en las bases de datos PubMed, Scielo, Elsevier, Scribd, Medigraphic. Desarrollo y Conclusiones: Aunque el SH es de difícil identificación por los síntomas tan inespecíficos, si se diagnostica y trata en el momento oportuno, dada su elevada morbimortalidad se lograra salvar muchas vidas...(AU)


Subject(s)
Humans , Phagocytosis , Lymphohistiocytosis, Hemophagocytic/diagnosis , Bone Marrow/injuries , Lymphoproliferative Disorders
19.
An. bras. dermatol ; An. bras. dermatol;93(3): 422-425, May-June 2018. graf
Article in English | LILACS | ID: biblio-949894

ABSTRACT

Abstract: Extranodal NK/T-cell lymphoma nasal type is a rare disease that mainly affects the nasal cavity and paranasal sinuses of males in the fifth decade of life. It has aggressive and locally destructive behaviour, and can be complicated by the hemophagocytic syndrome, conferring high lethality to the disease. This article describes a case of NK/T-cell lymphoma nasal type in a previously healthy patient, exemplifying its rapid and fulminant course.


Subject(s)
Humans , Male , Middle Aged , Nose Neoplasms/pathology , Lymphohistiocytosis, Hemophagocytic/pathology , Lymphoma, Extranodal NK-T-Cell/pathology , Syndrome , Immunohistochemistry , Nose Neoplasms/diagnosis , Nose Neoplasms/virology , Fatal Outcome , Epstein-Barr Virus Infections/complications , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/virology , Lymphoma, Extranodal NK-T-Cell/diagnosis , Lymphoma, Extranodal NK-T-Cell/virology
20.
Arch. pediatr. Urug ; 89(2): 122-128, abr. 2018. tab, ilus
Article in Spanish | LILACS | ID: biblio-950131

ABSTRACT

La linfohistiocitosis hemofagocítica engloba un grupo heterogéneo de enfermedades que pueden presentarse a cualquier edad. La forma genética o primaria se manifiesta antes del año de vida y la forma adquirida o secundaria puede verse en cualquier grupo etario vinculada con procesos infecciosos, oncológicos, reumatológicos o inmunológicos. El diagnóstico requiere un alto índice de sospecha y se confirma con los criterios propuestos por la Histiocyte Society. La mortalidad relacionada con esta enfermedad es elevada. La presentación de este caso clínico pretende concientizar a los pediatras con el objetivo de lograr un diagnóstico precoz que permita iniciar un tratamiento oportuno, efectivo y dirigido.


Hemophagocytic lymphohistiocytosis includes an heterogeneous group of diseases that can occur at any age. The genetic or primary form manifests before the first year of life and the acquired or secondary form is usually related to infectious, oncological, rheumatic or immunologic processes and can be seen at any age. This diagnosis requires high rate of suspicion and it is confirmed by the Histiocyte Society's criteria. Death rate related to this condition is extremely high.This case report aims to raise awareness among pediatricians with the intention of obtaining an early diagnosis that allows clinicians to initiate effective and directed treatment opportunely.


A linfohistiocitose hemofagocítica engloba um grupo heterogêneo de doenças que podem ocorrer em qualquer idade. A forma genética ou primária manifesta-se antes de um ano de vida e a forma adquirida ou secundária pode se observar em qualquer faixa etária ligada a processos infecciosos, oncológicos, reumatológicos ou imunológicos. O diagnóstico requer um alto índice de suspeita e é confirmado pelos critérios propostos pela Hystiocyte Society. A mortalidade relacionada a essa doença é alta. A apresentação deste caso clínico tenta conscientizar os pediatras, com o objetivo de obter um diagnóstico precoce que permita iniciar um tratamento oportuno, eficaz e dirigido.


Subject(s)
Humans , Male , Lymphohistiocytosis, Hemophagocytic , Lymphohistiocytosis, Hemophagocytic/diagnosis
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