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1.
Yonsei Med J ; 60(6): 592-596, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31124344

RESUMO

Severe fever with thrombocytopenia syndrome (SFTS) is an emerging infectious zoonosis caused by the SFTS virus. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome associated with excessive immune activation. Cytokine storms are often seen in both SFTS and HLH, resulting in rapid disease progression and poor prognosis. The aim of this study was to identify whether SFTS cases complicated by HLH are related to higher rates of mortality. Descriptive analysis of the frequency of clinical and laboratory data, complications, treatment outcomes, and HLH-2004 criteria was performed. Cases presenting with five or more clinical or laboratory findings corresponding to the HLH-2004 diagnostic criteria were defined as SFTS cases complicated by HLH. Eighteen cases of SFTS were identified during a 2-year study period, with a case-fatality proportion of 22.2% (4 among 18 cases, 95% confidence interval 9%-45.2%). SFTS cases complicated by HLH were identified in 33.3% (6 among 18 cases). A mortality rate of 75% (3 among 4 cases) was recorded among SFTS cases complicated by HLH. Although there were no statistically significant differences in outcomes, fatal cases exhibited more frequent correlation with HLH-2004 criteria than non-fatal cases [3/14 (21.4%) vs. 3/4 (75%), p=0.083]. In conclusion, the present study suggests the possibility that SFTS cases complicated by HLH are at higher risk of poor prognosis.


Assuntos
Febre/complicações , Febre/virologia , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/virologia , Phlebovirus/fisiologia , Trombocitopenia/complicações , Trombocitopenia/virologia , Idoso , Citocinas/metabolismo , Feminino , Humanos , Linfo-Histiocitose Hemofagocítica/patologia , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
2.
BMC Infect Dis ; 19(1): 399, 2019 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-31072325

RESUMO

BACKGROUND: Non-tuberculous mycobacterial (NTM) infection is usually observed in patients with immunosuppressive conditions. It may also cause unregulated immune responses. While there have been increasing numbers of reported tuberculosis-related HPS (haemophagocytic syndrome), HPS caused by NTM infection is still very rarely reported. CASE PRESENTATION: We report a previously healthy 21-year-old Chinese female with fever, night sweats and fatigue, in whom HPS was diagnosed according to the HLH-2004 criteria. Mycobacterium intracellulare was cultured from her peripheral blood. After treatment with corticosteroid, clarithromycin, rifampicin, ethambutol and amikacin, the patient finally recovered. We also reviewed relevant publications on NTM infection complicated with HPS and found 11 cases, including ours. Clinical presentations, diagnoses and prognoses were analysed and summarized to deepen our understanding of this rare condition. CONCLUSIONS: Most reported NTM-related cases were caused by disseminated infection. The lack of localized symptoms might add to the difficulty involved in making the right diagnosis. While it usually takes time to obtain tissue or blood culture results, granuloma in a bone marrow biopsy might be an early indicator of possible mycobacterial infection. Although treatment varied, the overall prognosis of NTM-related HPS was promising.


Assuntos
Linfo-Histiocitose Hemofagocítica/diagnóstico , Infecções por Micobactéria não Tuberculosa/diagnóstico , Antibacterianos/uso terapêutico , Medula Óssea/patologia , Feminino , Febre/etiologia , Humanos , Imunossupressores/uso terapêutico , Linfo-Histiocitose Hemofagocítica/complicações , Infecções por Micobactéria não Tuberculosa/complicações , Infecções por Micobactéria não Tuberculosa/tratamento farmacológico , Infecções por Micobactéria não Tuberculosa/microbiologia , Complexo Mycobacterium avium/isolamento & purificação , Tomografia Computadorizada por Raios X , Adulto Jovem
3.
BMJ Case Rep ; 12(4)2019 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-31015233

RESUMO

Haemophagocytic lymphohistiocytosis (HLH) is an immune dysregulation disorder with variable presentations and non-specific features making it extremely difficult to diagnose early in the clinical course. Here, we are presenting a case of a young man who presented in cardiogenic shock with findings of anterolateral wall ischaemia on ECG. Echocardiography findings were consistent with takotsubo cardiomyopathy (TCM). Cardiac catheterisation showed clean coronary arteries and pulmonary artery pressure measurements showed high output cardiac failure. After extensive workup, the patient was diagnosed with HLH. In spite of aggressive supportive and definitive therapy, he eventually died due to a complicated clinical course. We did a comprehensive literature review and found that this is the first reported case of HLH presenting as TCM as the initial clinical manifestation.


Assuntos
Síndrome de Imunodeficiência Adquirida/complicações , Linfo-Histiocitose Hemofagocítica/complicações , Cardiomiopatia de Takotsubo/etiologia , Adulto , Diagnóstico Diferencial , Ecocardiografia/métodos , Eletrocardiografia/métodos , Evolução Fatal , HIV/imunologia , Humanos , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/terapia , Masculino , Volume Sistólico , Cardiomiopatia de Takotsubo/diagnóstico , Cardiomiopatia de Takotsubo/fisiopatologia , Cardiomiopatia de Takotsubo/terapia
4.
Tohoku J Exp Med ; 247(3): 149-152, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30828029

RESUMO

Neonatal disseminated herpes simplex virus (HSV) infection is a severe disease with high mortality and morbidity; yet, the pathophysiology remains unclear. Here, we report a male infant with disseminated HSV type 1 (HSV-1) infection, complicated by hemophagocytic lymphohistiocytosis (HLH) and multiple organ failure. The infant, born at 39 weeks of gestation by normal delivery, developed fever (38.5˚C) with the high serum C-reactive protein levels on the 1st day of life, and exhibited tachypnea on the 3rd day. On the 5th day of life, the patient received mechanical ventilation and was transferred to our neonatal ICU. Real-time PCR for HSV-1 DNA revealed an extremely high serum concentration (1.0 × 109 copies/µL), and he was diagnosed with HSV-1 infection. Acyclovir (ACV) and corticosteroid pulse therapies with methylprednisolone were started. Continuous hemodiafiltration (CHDF) using cytokine-absorbing hemofilters was also initiated because of renal failure. These therapies, however, failed to control the disease, and the patient died on the 41st day of life. The dose of ACV on CHDF might not be adequate, although we could not measure the serum ACV concentrations. After the patient's death, we measured his serum cytokine concentrations taken four times during the clinical course. Serum concentrations of interleukin (IL)-6, IL-10, IL-1ß, and interferon (IFN)-γ were elevated at the time of admission and were remarkably decreased by 10 days after treatment. In particular, the concentrations of IL-1ß and IFN-γ were lower than the measurable ranges. It is therefore important to measure serum cytokine concentrations in real time to prevent excessive immune suppression.


Assuntos
Herpes Simples/virologia , Linfo-Histiocitose Hemofagocítica/complicações , Complicações Infecciosas na Gravidez/virologia , Índice de Gravidade de Doença , Carga Viral , Adulto , Estudos de Casos e Controles , Citocinas/sangue , Evolução Fatal , Feminino , Herpes Simples/sangue , Humanos , Lactente , Recém-Nascido , Linfo-Histiocitose Hemofagocítica/sangue , Masculino , Complicações Infecciosas na Gravidez/sangue
5.
Exp Clin Transplant ; 17(Suppl 1): 226-229, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30777561

RESUMO

Hemophagocytic lymphohistiocytosis is a rare and life-threatening systemic disease that can cause hepatic infiltration and present as acute liver failure. Here, we report a case of a 3-year-old pediatric patient who presented with acute liver failure and hepatic encephalopathy secondary to hemophagocytic lymphohistiocytosis. She had left lateral segment liver transplant from her father. After 27 months, she had bone marrow transplant from her sister. At the time of reporting (36 months after liver transplant), she showed normal liver function and blood peripheral counts. We found that liver transplant can be a curative treatment for this type of rare disorder, not only to improve the quality of life but also to prolong survival.


Assuntos
Transplante de Medula Óssea , Encefalopatia Hepática/cirurgia , Falência Hepática Aguda/cirurgia , Transplante de Fígado , Linfo-Histiocitose Hemofagocítica/cirurgia , Exame de Medula Óssea , Transplante de Medula Óssea/métodos , Pré-Escolar , Feminino , Encefalopatia Hepática/diagnóstico , Encefalopatia Hepática/etiologia , Humanos , Falência Hepática Aguda/diagnóstico , Falência Hepática Aguda/etiologia , Testes de Função Hepática , Transplante de Fígado/métodos , Doadores Vivos , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/diagnóstico , Resultado do Tratamento
6.
Medicine (Baltimore) ; 98(2): e14032, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30633196

RESUMO

RATIONALE: Chronic active Epstein-Barr virus infection (CAEBV) is a common infectious disease that often affects multiple organs or systems. However, it is liable to be neglected and misdiagnosed owing to its insidious onset, lack of specific findings in the early phase, and a general lack of awareness among clinicians. PATIENT CONCERNS:: a 27-year-old woman case has been described who was initially misdiagnosed as drug-induced liver injury due to onset presentation of mild splenomegaly, recurrent liver dysfunction, and disputable pathological evidence of liver biopsy. DIAGNOSES: CAEBV complicated with natural killer (NK) cell lymphoma and hemophagocytic lymphohistiocytosis (HLH) was diagnosed by in situ hybridization of liver tissue section with EBV-encoded RNA -1 probe and flow cytometry of bone marrow. INTERVENTIONS: After admission, the patient received symptomatic treatment and antiviral therapy (combination of acyclovir and foscarnet sodium) as well as adjuvant treatment (thymosin alpha 1 and methylprednisolone); later, the patient received etoposide and dexamethasone for diagnosis of EBV associated HLH. Subsequently, the disease progressed to NK cell lymphoma and the patient received the revised EPOCH chemotherapy regimen [etoposide (100 mg/d, d1-5), dexamethasone (7.5 mg/d, d1-5; 5 mg/d, d6-14), cyclophosphamide (0.8 g/d, d1-2), and pegaspargase (3750 u/d, tid, d1-2)]. OUTCOMES: Although the patient received a series of therapies and other comprehensive measures, finally she died of gastrointestinal hemorrhage and multiple organ failure. LESSONS: Liver is one of the main target organs of EBV infection. In the clinical setting of unexplained fever and liver injury, it is necessary to be aware of CAEBV, as well as its fatal complication such as EBV associated NK cell lymphoma and HLH.


Assuntos
Infecções por Vírus Epstein-Barr/complicações , Linfo-Histiocitose Hemofagocítica/complicações , Linfoma/complicações , Adulto , Doença Crônica , Diagnóstico Diferencial , Infecções por Vírus Epstein-Barr/diagnóstico , Infecções por Vírus Epstein-Barr/tratamento farmacológico , Infecções por Vírus Epstein-Barr/patologia , Evolução Fatal , Feminino , Humanos , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Linfo-Histiocitose Hemofagocítica/patologia , Linfoma/diagnóstico , Linfoma/tratamento farmacológico , Linfoma/patologia
7.
BMC Infect Dis ; 19(1): 65, 2019 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-30654754

RESUMO

BACKGROUND: Herpes simplex virus (HSV) has various presentations, depending on the patient's immune status, age, and the route of transmission. In adults, HSV type 1 is found predominantly in the oral area, and HSV type 2 (HSV-2) is commonly found in the genital area. HSV-2 infection without genital lesions is uncommon. Herein we report a unique case of pharyngotonsillitis as an initial manifestation of disseminated HSV-2 infection without genital involvement. CASE PRESENTATION: A 46-year-old male was admitted to our hospital with a 1-week history of fever and sore throat. His past medical history included hypereosinophilic syndrome diagnosed at age 45 years. Physical examination revealed throat congestion, bilaterally enlarged tonsils with exudates, tender cervical lymphadenopathy in the left posterior triangle, and mild epigastric tenderness. The laboratory data demonstrated bicytopenia, elevated liver enzyme levels, and hyperferritinemia. A bone marrow smear showed hypocellular marrow with histiocytes and hemophagocytosis. The diagnosis of HLH was confirmed, and the patient was treated with methylprednisolone pulse therapy on days 1-3. On day 5, despite initial improvement of the fever and sore throat, multiple, new, small bullae developed on the patient's face, trunk, and extremities. Additional testing showed that he was positive for HSV-specific immunoglobulin M and immunoglobulin G. Disseminated HSV infection was suspected, and intravenous acyclovir (10 mg/kg every 8 h) was begun. A subsequent direct antigen test of a bulla sample was positive for HSV-2. Moreover, tonsillar and esophageal biopsies revealed viral inclusion bodies. Immunohistochemical staining and a quantitative real-time polymerase chain reaction (PCR) assay confirmed the presence of HSV-2. Disseminated HSV-2 infection with multiple bullae, tonsillitis, esophagitis, and suspected hepatic involvement was diagnosed. After a 2-week course of intravenous acyclovir, his hematological status and liver function normalized, and his cutaneous skin lesions resolved. He was discharged on day 22 in good general health and continued taking oral valacyclovir for viral suppression due to his immunosuppressed status. CONCLUSION: Disseminated HSV-2 infection should be considered as one of the differential diagnoses in patients with pharyngotonsillitis and impaired liver function of unknown etiology even if there are no genital lesions.


Assuntos
Esofagite/diagnóstico , Herpes Simples/diagnóstico , Herpesvirus Humano 2/isolamento & purificação , Linfo-Histiocitose Hemofagocítica/diagnóstico , Tonsilite/diagnóstico , Aciclovir/uso terapêutico , Esofagite/complicações , Esofagite/tratamento farmacológico , Esofagite/virologia , Herpes Simples/complicações , Herpes Simples/tratamento farmacológico , Herpes Simples/virologia , Humanos , Hospedeiro Imunocomprometido , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Linfo-Histiocitose Hemofagocítica/virologia , Masculino , Pessoa de Meia-Idade , Faringite/diagnóstico , Faringite/tratamento farmacológico , Faringite/virologia , Tonsilite/complicações , Tonsilite/tratamento farmacológico , Tonsilite/virologia , Sistema Urogenital/virologia
9.
Med Hypotheses ; 122: 165-171, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30593404

RESUMO

Intracellular ferritin is known to store iron, an essential element in an array of physiological processes. But what purpose does serum ferritin serve, what controls ultra-high hyperferritinaemia (ferritin levels above 4000 ng/ml), and finally why is it raised in inflammatory diseases, the most impressive being haemophagocytic lymphohistiocytosis? This paper proposes a hypothesis and model to explain the above questions. Serum ferritin has some unfamiliar physiological properties. It dampens severe inflammation by inhibiting lymphocyte activity, hinders bacterial growth by acting as an iron chelator and slows malignant growth by having an antiangiogenic effect. Therefore, serum ferritin is effective at modulating many conditions and could be a desired physiological process in malignancy or infection. The proposed theory is that phagocytic cells fuse with pathological native cells in much the same way as macrophages do when forming multinucleated giant cells. The pathological cells can be "infected" by intracellular pathogens or the malignant phenotype. These fusion cells result in a massive upregulation of exclusive features of macrophage activity such as phagocytosis, iron metabolism and ferritin release. Dysfunctional mitochondria are critical to this process, Pathological cells that contain dysfunctional mitochondria "infect" phagocytic mitochondrial following cellular fusion, resulting in ferritin release. The key evidence suporting this idea: macrophages are the source of ferritin secretion; they have intimate contact with known triggers of HLH, allowing for fusion hybrids, and they commonly fuse with cells. It is also argued that exclusively intracellular pathologies trigger HLH, which is a requirement for this model. HLH has features of a mitochondriopathy and finally it is debated that all the defective genes known to trigger familial-HLH can increase the likelihood of macrophage fusion. If this hypothesis is correct, the implications might discover novel diagnostic tools to detect HLH and point to avenues of targeted therapy. This is a bold theory with interesting perspectives on cell biology and clinical medicine. The paper discusses the evidence and challenges of this proposed mechanism in describing hyperferritinaemia and its relation to HLH.


Assuntos
Sobrecarga de Ferro/complicações , Sobrecarga de Ferro/fisiopatologia , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/fisiopatologia , Animais , Ferritinas/metabolismo , Humanos , Inflamação , Macrófagos/metabolismo , Modelos Teóricos , Metástase Neoplásica , Fagocitose , Fenótipo
10.
Acta Haematol ; 141(1): 55-60, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30537757

RESUMO

Haemophagocytic lymphohistiocytosis (HLH) is a rare and severe clinical syndrome that can be classified as either primary or secondary. Secondary HLH can be triggered by a variety of diseases. Pregnancy-related HLH has already been observed clinically. However, most of these cases occur during pregnancy. Considering that the periods before and after delivery have different clinical features, we presented the first case series of HLH that presented during the postpartum stage of pregnancy. From these cases, we concluded that postpartum HLH is a common form of pregnancy-related HLH. Patients with postpartum HLH may suffer more complicated pathogenesis. Cytopenia was not as common as in other types of HLH, but liver dysfunction was present in almost all cases. The standard therapy of HLH-94/04 was very effective, and the outcomes of postpartum HLH were better.


Assuntos
Linfo-Histiocitose Hemofagocítica/diagnóstico , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Bacteriemia/complicações , Bacteriemia/diagnóstico , Feminino , Humanos , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Período Pós-Parto , Gravidez , Resultado do Tratamento , Adulto Jovem
12.
J Korean Med Sci ; 33(50): e319, 2018 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-30534031

RESUMO

The incidence of severe fever with thrombocytopenia syndrome (SFTS) has increased in Korea since a first report in 2013. We investigated whether SFTS existed before 2013 using real-time reverse transcription polymerase chain reaction and stored blood samples from febrile patients with thrombocytopenia. Four cases of SFTS were identified, with the earliest occurring in 2008.


Assuntos
Febre/etiologia , Linfo-Histiocitose Hemofagocítica/diagnóstico , Trombocitopenia/diagnóstico , Medula Óssea/patologia , Ferritinas/sangue , Febre/diagnóstico , Humanos , Subunidade alfa de Receptor de Interleucina-2/metabolismo , Linfo-Histiocitose Hemofagocítica/complicações , Masculino , Pessoa de Meia-Idade , República da Coreia , Estudos Retrospectivos , Índice de Gravidade de Doença , Trombocitopenia/complicações , Adulto Jovem
13.
Medicine (Baltimore) ; 97(44): e12762, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30383631

RESUMO

RATIONALE: The balanced translocation t(8;21;22)(q22;q22;q11.2) is not reported previously, although t(8;21)(q22;q22) is seen in approximately 7% of adults and most frequent abnormality in children with newly diagnosed acute myeloid leukemia (AML). AML-associated hemophagocytic lymphohistiocytosis (HLH) is a rare event, reported only of limited numbers. The present study reports a very rare case of t(8;21;22)(q22;q22;q11.2) with AML, not reported previously, and developed HLH at the same time. PATIENT CONCERNS AND DIAGNOSIS: A 15-year-old girl presented with a history of bleeding gums and high fever, leukocytosis, anemia, and thrombocytopenia. While waiting the result of bone marrow aspirate, the HLH-associated examinations were abnormal. Bone marrow aspirate showed a hypercellular marrow with 1% myeloblasts. The cytogenetic and molecular studies revealed the presence of abnormal karyotype-46, XX, t(8;21;22)(q22;q22;q11.2) and RUNX1-RUNX1T1 fusion gene. Genetic detections of HLH showed heterozygous genetic variants in lysosomal trafficking regulator (LYST). Hence, she was diagnosed with AML with t(8;21;22)(q22;q22;q11.2) and HLH. INTERVENTIONS AND OUTCOMES: All HLH clinical symptoms disappeared after the 4 weeks treatment of HLH. Then the patient received standard AML induction chemotherapy and the leukemia relapsed after 2 cycles of high-dosed consolidation therapy. Eventually, the patient received emergent paternal haploidentical hematopoietic stem cell transplantation based on the complex variant translocation, leukemia replased state and HLH with compound heterozygotes mutation, and achieved sustained remission with RUNX1-RUNX1T1 negative for more than 1 year. LESSONS: Patients with some specific recurrent cytogenetic abnormalities should be diagnosed with AML regardless of the blast count, for example t(8;21). We should improve the understanding of complex variant translocations. HLH-related genetic mutations were not only found in primary HLH, but also in second HLH.


Assuntos
Leucemia Mieloide Aguda/genética , Linfo-Histiocitose Hemofagocítica/genética , Translocação Genética/genética , Adolescente , Antineoplásicos/uso terapêutico , Cromossomos Humanos Par 21/genética , Cromossomos Humanos Par 22/genética , Cromossomos Humanos Par 8/genética , Feminino , Transplante de Células-Tronco Hematopoéticas/métodos , Humanos , Leucemia Mieloide Aguda/complicações , Leucemia Mieloide Aguda/terapia , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/terapia
14.
Medicine (Baltimore) ; 97(44): e13019, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30383659

RESUMO

RATIONALE: X-linked lymphoproliferative syndromes (XLPs) are rare, yet often fatal primary immunodeficiency diseases, which rarely manifest as Langerhans cell histiocytosis (LCH) complicated with hemophagocytic lymphohistiocytosis (HLH). Clinical data of a case of XLP-2 manifesting as LCH complicated with HLH was retrospectively analyzed to determine the etiology and causal gene. PATIENT CONCERNS AND DIAGNOSIS: The diagnosis of multisystem LCH was confirmed by skin biopsy and other examinations in a 13-month boy with recurrent ear discharge, fever and hemorrhagic papules for 3 months. A good therapeutic response to LCH-III protocol-directed induction chemotherapy was achieved but unremitting HLH developed 6 weeks after the initiation of induction chemotherapy. To identify possible underlying genetic causes, gene mutation analysis was undertaken. A novel XIAP gene mutation (c.99delT, p.F33fsX37) was documented. INTERVENTIONS: After the diagnosis of HLH had been confirmed, HLH-2004-directed chemotherapy was instituted. OUTCOMES: The clinical condition of the patient had become progressively deteriorating after 8-week chemotherapy of HLH-2004 protocol, requiring frequent infusions of RBC suspensions and apheresis platelets. His parents decided to receive no further therapy, and the patient died soon after discharge. LESSONS: Meticulous laboratory investigations including genetic studies should be undertaken in young children with LCH complicated with HLH and poor therapeutic response.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Histiocitose de Células de Langerhans/complicações , Linfo-Histiocitose Hemofagocítica/complicações , Proteínas Inibidoras de Apoptose Ligadas ao Cromossomo X/genética , Evolução Fatal , Testes Genéticos/métodos , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/terapia , Humanos , Quimioterapia de Indução , Lactente , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/terapia , Masculino , Mutação , Estudos Retrospectivos , Pele/patologia
15.
Medicine (Baltimore) ; 97(44): e13025, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30383662

RESUMO

RATIONALE: Thrombotic thrombocytopenic purpura (TTP) and hemophagocytic lymphohistiocytosis (HLH) are rare hematologic conditions and have high mortality. Both TTP and HLH result from deregulation of the immune system. There are no published reports of coexisting TTP and HLH in elderly patients. PATIENT CONCERNS: A 67-year-old Asian male presented with altered consciousness and fever for 2 days. Physical examination revealed markedly pale, mild icterus with petechiae and purpura. Initially, TTP was recognized in this patient. Bone marrow studies are suggested for evaluating elderly patients to assess specific causes, especially infection and neoplasm. DIAGNOSES: The TTP was diagnosed based on typical history-related symptoms and a specific laboratory result of very low ADAMTS13 level. The diagnosis of HLH was determined after detection of high levels of ferritin and lactase dehydrogenase, which were confirmed by the presence of hemophagocytosis in the bone marrow. INTERVENTIONS: Systemic corticosteroids and plasma exchange were initiated as specific treatment of the patient. OUTCOMES: The patient died in 3 weeks from ventilator-associated pneumonia. LESSONS: The HLH should be tested using bone marrow studies and specific laboratory tests in patients with TTP.


Assuntos
Linfo-Histiocitose Hemofagocítica/complicações , Púrpura Trombocitopênica Trombótica/complicações , Proteína ADAMTS13/sangue , Idoso , Exame de Medula Óssea/métodos , Evolução Fatal , Glucocorticoides/uso terapêutico , Humanos , Linfo-Histiocitose Hemofagocítica/diagnóstico , Masculino , Troca Plasmática/métodos , Púrpura Trombocitopênica Trombótica/diagnóstico
16.
APMIS ; 126(11): 877-882, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30357959

RESUMO

Enterovirus is a common viral infection, which can affect multiple organ systems with an array of clinical presentation such as meningitis, encephalitis, myocarditis, and disseminated infections. The illness is usually asymptomatic and self-limited but few cases can be severe and life-threatening especially when associated with hemophagocytosis. We discuss a fatal case of disseminated enterovirus infection and the histomorphological features of the infection.


Assuntos
Infecções por Enterovirus/virologia , Enterovirus/patogenicidade , Linfo-Histiocitose Hemofagocítica/virologia , Adolescente , Criança , Pré-Escolar , Enterovirus/fisiologia , Infecções por Enterovirus/complicações , Infecções por Enterovirus/diagnóstico , Infecções por Enterovirus/patologia , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/patologia , Masculino
17.
J Cancer Res Ther ; 14(3): 559-562, 2018 Apr-Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29893316

RESUMO

Aim of Study: Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of immune dysregulation resulting in abnormal T-cell activation and inflammatory cytokine production which produces a constellation of clinical features unique to HLH. Pediatric secondary HLH is usually triggered by infection, malignancy, or rheumatological disorders. The diagnosis of malignancy-associated HLH (MA-HLH) poses a difficult challenge as clinical features may be attributed to the underlying disease or chemotherapy. Our study aimed to see the occurrence of this rare entity at our centre. Materials and Methods: Data were collected from all pediatric oncology patient treated at our center with the diagnosis of MA-HLH from January 2012 to December 2014. Data were collected for age, sex, underlying disease, treatment protocol, stage of chemotherapy, any underlying infection, treatment given for HLH, and outcome. Results: There were five patients with a diagnosis of MA-HLH in the study period. Age ranged from 18 months to 9 years. Of the five MA-HLH, two patients had acute lymphoblastic leukemia, two acute myeloid leukemia, and one had Hodgkin lymphoma. The three patients who had documented microbiological infection also did not improve after appropriate treatment. Two patients died during treatment. One patient improved completely on steroid alone. One patient received HLH 2004 induction. Conclusion: The delay in the diagnosis of MA-HLH in pediatric patients may be due to decrease awareness about the condition the timely diagnosis of MA-HLH is crucial for a better outcome. Herein, we discuss our experience with this rare entity in pediatric oncology patients with review of literature.


Assuntos
Doença de Hodgkin/patologia , Leucemia Mieloide Aguda/patologia , Linfo-Histiocitose Hemofagocítica/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Doença Aguda , Criança , Pré-Escolar , Citocinas/biossíntese , Feminino , Doença de Hodgkin/complicações , Doença de Hodgkin/diagnóstico , Humanos , Lactente , Infecção/complicações , Infecção/diagnóstico , Infecção/patologia , Leucemia Mieloide Aguda/complicações , Leucemia Mieloide Aguda/diagnóstico , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/diagnóstico , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Linfócitos T/imunologia , Linfócitos T/patologia
18.
Pan Afr Med J ; 29: 75, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29875956

RESUMO

Macrophage activation syndrome (MAS) is a severe and potentially fatal life-threatening condition associated with excessive activation and expansion of T cells with macrophages and a high expression of cytokines, resulting in an uncontrolled inflammatory response, with high levels of macrophage colony-stimulating factor and causing multiorgan damage. This syndrome is classified into primary (genetic/familial) or secondary forms to several etiologies, such as infections, neoplasias mainly hemopathies or autoimmune diseases. It is characterised clinically by unremitting high fever, pancytopaenia, hepatosplenomegaly, hepatic dysfunction, encephalopathy, coagulation abnormalities and sharply increased levels of ferritin. The pathognomonic feature of the syndrome is seen on bone marrow examination, which frequently, though not always, reveals numerous morphologically benign macrophages exhibiting haemophagocytic activity. Because MAS can follow a rapidly fatal course, prompt recognition of its clinical and laboratory features and immediate therapeutic intervention are essential. However, it is difficult to distinguish underlying disease flare, infectious complications or medication side effects from MAS. Although, the pathogenesis of MAS is unclear, the hallmark of the syndrome is an uncontrolled activation and proliferation of T lymphocytes and macrophages, leading to massive hypersecretion of pro-inflammatory cytokines. Mutations in cytolytic pathway genes are increasingly being recognised in children who develop MAS in his secondary form. We present here a case of Macrophage activation syndrome associated with Griscelli syndrome type 2 in a 3-years-old boy who had been referred due to severe sepsis with non-remitting high fever, generalized lymphoadenopathy and hepato-splenomegaly. Laboratory data revealed pancytopenia with high concentrations of triglycerides, ferritin and lactic dehydrogenase while the bone marrow revealed numerous morphologically benign macrophages with haemophagocytic activity that comforting the diagnosis of a SAM according to Ravelli and HLH-2004 criteria. Griscelli syndrome (GS) was evoked on; consanguineous family, recurrent infection, very light silvery-gray color of the hair and eyebrows, Light microscopy examination of the hair showed large, irregular clumps of pigments characteristic of GS. The molecular biology showed mutation in RAB27A gene confirming the diagnosis of a Griscelli syndrome type 2. The first-line therapy was based on the parenteral administration of high doses of corticosteroids, associated with immunosuppressive drugs, cyclosporine A and etoposide waiting for bone marrow transplantation (BMT).


Assuntos
Síndromes de Imunodeficiência/complicações , Linfo-Histiocitose Hemofagocítica/complicações , Síndrome de Ativação Macrofágica/etiologia , Piebaldismo/complicações , Proteínas rab27 de Ligação ao GTP/genética , Corticosteroides/uso terapêutico , Pré-Escolar , Humanos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/fisiopatologia , Imunossupressores/uso terapêutico , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/fisiopatologia , Síndrome de Ativação Macrofágica/diagnóstico , Síndrome de Ativação Macrofágica/fisiopatologia , Masculino , Mutação , Piebaldismo/diagnóstico , Piebaldismo/fisiopatologia , Sepse/etiologia
19.
Ann Otol Rhinol Laryngol ; 127(6): 409-413, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29776323

RESUMO

INTRODUCTION: Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease affecting the cytotoxic pathway. Due to the recent advances in molecular diagnosis, immuno-chemo therapy, and hematopoietic stem cell transplantation treatment, FHL survival rates have drastically increased. CASE PRESENTATION: Herein, we describe a case of FHL type 5 presenting with low-frequency sensorineural hearing loss. Alongside our reported case, 6 additional patients were identified in the literature. Management and Outcome: The progressive nature of FHL disorder may cause bilateral, low-frequency, irreversible sensorineural hearing loss. This type of hearing loss should be considered among the long-term sequelea presenting with FHL5. DISCUSSION: We recommend audiological evaluation at initial FHL5 diagnosis to assess for hearing functions. Follow-up in audiology should be part of the long-term monitoring of patients with FHL5 as hearing loss could develop long after diagnosis.


Assuntos
Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/etiologia , Linfo-Histiocitose Hemofagocítica/complicações , Adulto , Humanos , Linfo-Histiocitose Hemofagocítica/diagnóstico , Masculino
20.
Intern Med ; 57(18): 2747-2752, 2018 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-29780126

RESUMO

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 addition of cyclosporine A (CsA) led to a rapid remission from ALHS. This suggests the usefulness of CsA in the treatment of intractable, corticosteroid- and IVCY-resistant ALHS.


Assuntos
Ciclosporina/uso terapêutico , Imunossupressores/uso terapêutico , Vasculite Associada ao Lúpus do Sistema Nervoso Central/complicações , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Administração Intravenosa , Corticosteroides/uso terapêutico , Ciclofosfamida/uso terapêutico , Fármacos Dermatológicos/uso terapêutico , Humanos , Vasculite Associada ao Lúpus do Sistema Nervoso Central/tratamento farmacológico , Masculino , Metilprednisolona/uso terapêutico , Adulto Jovem
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