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1.
J Assoc Physicians India ; 67(7): 80-81, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31559779

RESUMO

Hemophagocytic lymphohistiocytosis (HLH) is a rare but aggressive and potentially fatal condition characterized by excessive immune activation. It can occur as primary/ familial and secondary/sporadic/ acquired form. Infections can play a role as triggers in the secondary form of HLH. A case of Hemophagocytic lymphohistiocytosis (HLH) in a patient of Scrub typhus is being reported here. Such association of scrub typhus and HLH is rare.


Assuntos
Linfo-Histiocitose Hemofagocítica , Tifo por Ácaros , Humanos
2.
Rinsho Ketsueki ; 60(8): 944-952, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-31484894

RESUMO

Chronic active Epstein-Barr virus infection (CAEBV) presents with mononucleosis-like symptoms such as chronic persistent or recurrent pyrexia, lymphadenopathy, and hepatosplenomegaly because of the reactivation of Epstein-Barr virus (EBV) as demonstrated by the recurrence of EBV-infected cells. The mechanism of CAEBV remains obscure, and CAEBV can lead to fatal conditions such as hemophagocytic syndrome and malignant lymphoma by clonal expansion of EBV-infected T- or NK-cells. Without hematopoietic stem cell transplantation, CAEBV has a poor prognosis. CAEBV is listed in the revised 2016 World Health Organization classification as a chronic active EBV infection of T- and NK-cell types, systemic form, among EBV-positive T- and NK-cell lymphoproliferative diseases of childhood. However, similar clinical conditions have been reported in adult patients. Therefore, we investigated the clinical features of adult patients with CAEBV-like features (adult-onset CAEBV) in a relatively small number of cases. Additionally, genetic alterations related to CAEBV development have also been reported. Along with these results, we reviewed the clinical characteristics of adult-onset CAEBV.


Assuntos
Infecções por Vírus Epstein-Barr , Mononucleose Infecciosa , Linfo-Histiocitose Hemofagocítica , Transtornos Linfoproliferativos , Adulto , Criança , Doença Crônica , Humanos
3.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 27(4): 1297-1304, 2019 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-31418396

RESUMO

OBJECTIVE: To explore the clinical feature of liver injury in patients with hemophagocytic syndrome (HPS). METHODS: The clinical data of 92 patients with HPS in our hospital were analyzed retrospectively, and the characteristics of hepatic lesion and its relationship with prognosis in HPS patients were explored. RESULT: 92 cases of HPS showed different degrees of liver dysfunction from mild to moderate. The clinical parameters of liver dysfunction included the increased level of LDH (89.13%), AST (64.13%), TBIL (59.78%) and decreased level of ALB (90.22%). Moreover, 76.09% and 67.39% of the patients had the prolonging of APTT and PT respectively. The ALB level of patients in rheumatoid immune group were higher than that in infection, maglinancy and unexplained groups, all with statistically and significant difference (P<0.05, P<0.05 and P<0.01), the ALB level of patients in infection group were statistically and significantly higher than that in unexplained group (P<0.01). The Fbg level of patients in infection group were lower than that in maglinancy group, unexplained group and rheumatoid immune group, all the differences were statistically significant (P<0.05, P<0.01 and P<0.05). Child-Pugh grading was further carried out in HPS patients with liver disfunction. Survival time of the patients grade A was significantly higher than that of grade B and C of patients. Univariate analysis showed that the patients with LDH≥2000 U/L, ALB<30 g/L and PT≥15.1 s had a survival time inferior to control patients (P<0.05, P<0.01 and P<0.01, respectively). Multivariate analysis showed that ALB<30 g/L was an independent adverse prognostic factor for these patients (P<0.01). CONCLUSION: Patients with HPS generally have impaired liver function mainly manifested with elevated LDH and AST levels, and declined ALB level, which may correlate with the disease cause and prognosis. Patients with LDH≥2000 U/L, ALB<30 g/L and PT≥15.1 s have a poorer prognosis and should be treated as soon as possible.


Assuntos
Hepatopatias , Linfo-Histiocitose Hemofagocítica , Humanos , Prognóstico , Estudos Retrospectivos
4.
Ann Hematol ; 98(10): 2303-2310, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31388699

RESUMO

To study the genetic characteristics of primary hemophagocytic lymphohistiocytosis (pHLH) in China, we investigated the genetic data and clinical features of Chinese HLH patients. We retrospectively reviewed the genetic and clinical data of patients with HLH from November 2015 to June 2018. As a result, 26 patients were diagnosed with pHLH. The median age at diagnosis was 2.8 years (range 0.1-13.7 years). The probable overall survival at 12 and 24 months was 87.6% and 62.6%, respectively. Mutations in PRF1 (38.4%) and UNC13D (26.9%) were the most common genetic abnormalities. Furthermore, we identified 19 novel mutations that had not been previously reported and were predicted to likely be pathogenic. In addition to HLH-associated genes, there were 27 other genes identified. Genotype-phenotype analysis showed that patients with disruptive mutations were significantly younger at diagnosis than those with other mutation types (2.9 years vs. 6.4 years, P = 0.036). Familial HLH patients were more prone to central nervous system involvement and seizures compared with other patients (83.3% vs. 37.5%, P = 0.019; 55.6% vs. 12.5%, P = 0.04, respectively). In summary, numerous new mutations in HLH-related genes and other genes were identified in Chinese children with pHLH. Significantly, disruptive mutation types were more likely to be found in younger patients, and familial HLH patients tended to exhibit central nervous system involvement and seizures.


Assuntos
Linfo-Histiocitose Hemofagocítica/genética , Proteínas de Membrana/genética , Mutação , Perforina/genética , Adolescente , Criança , Pré-Escolar , China , Intervalo Livre de Doença , Feminino , Humanos , Lactente , Linfo-Histiocitose Hemofagocítica/mortalidade , Masculino
5.
Zhonghua Xue Ye Xue Za Zhi ; 40(6): 502-506, 2019 Jun 14.
Artigo em Chinês | MEDLINE | ID: mdl-31340624

RESUMO

Objective: To investigate the clinical characteristics of secondary hemophagocytic lymphohistiocytosis (sHLH) complicated with capillary leak syndrome (CLS) . Methods: The clinical and laboratory data of 87 sHLH patients, who were treated in our hospital between January 2015 and December 2017, were retrospectively analyzed. Depending on whether they were complicated with CLS, 21 sHLH patients were classified as the CLS-sHLH group, while 66 were classified as the non-CLS-sHLH group. The differences of clinical manifestations, laboratory tests, treatment and prognosis between the two groups were compared. Results: There was no significant difference in the etiology of sHLH between the CLS-sHLH group and the non-CLS-sHLH group (P>0.05) . The neutrophil, fibrinogen and albumin levels in the CLS-sHLH group were lower than those in the non-CLS-sHLH group, while the triacylglycerol levels were higher than those in the non-CLS-sHLH group (P<0.05) . Varying degrees of edema, weight gain, hypotension, hypoproteinemia, oliguria and multiple serous effusions were observed in the CLS-sHLH group. Among them, there were 15 patients that CLS get improved, and the medial time of improvement was 7 (5-14) days. The other 6 patients did not get remission, while they died within 6-30 days. The median overall survival of the CLS-sHLH group was lower than that of the non-CLS-sHLH group (75 days vs not reached, P=0.031) . Conclusions: There may be no correlation between the cause of sHLH and the occurrence of CLS. Severity of neutropenia, fibrinogen and albumin levels, and triglyceride levels may be accompanied for sHLH patients complicated with CLS. Patients with sHLH who complicated with CLS have a poor prognosis. Active treatment of HLH and its primary disease, reasonable fluid replacement and oxygen supply are crucial, which can effectively control disease progression.


Assuntos
Síndrome de Vazamento Capilar , Linfo-Histiocitose Hemofagocítica , Fibrinogênio , Humanos , Prognóstico , Estudos Retrospectivos
6.
Zhonghua Xue Ye Xue Za Zhi ; 40(5): 384-387, 2019 May 14.
Artigo em Chinês | MEDLINE | ID: mdl-31207702

RESUMO

Objective: To analyze the clinical features of patients with hemophagocytic lymphohistiocytosis (HLH) during perinatal stage. Methods: From January 2011 to October 2016, the obstetric materials, clinical features, associated disease/factors and therapeutic outcomes were studied in 11 patients with HLH in perinatal period. Results: In these 11 patients, 9 were primipara. As for the onset time of HLH, 5 were before delivery and 6 were after delivery. Six were complicated with other associated disease/factors, and infection was the commonest (5/6) . Treatment included glucocorticoid + fludarabine in 1 case, HLH-94/04 protocols in 9 cases, and monotherapy corticosteroids in 1 case. Two patients died eventually. Conclusions: Perinatal HLH is commonly observed in the pregnancy/postpartum related HLH (28th week of pregnancy to one week after delivery) . Infection is still the commonest associated factors. HLH-94/04 protocols after the cessation of pregnancy may be effective, but the cessation of pregnancy itself may not be enough for the perinatal stage related-HLH. The perinatal stage related-HLH still has a better outcome than the other subtype of secondary-HLH.


Assuntos
Linfo-Histiocitose Hemofagocítica , Corticosteroides , Feminino , Humanos , Gravidez
7.
BMC Infect Dis ; 19(1): 492, 2019 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-31164087

RESUMO

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease characterized by an excessive systemic inflammatory response, which can be classified as primary HLH (pHLH) and secondary HLH (sHLH). Viruses are the primary pathogens causing sHLH. Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne disease caused by hantaviruses. Its main characteristics include fever, circulatory collapse with hypotension, hemorrhage, and acute kidney injury. The case of HFRS presented with sHLH is very rare in clinic. We reported the HFRS inducing by Hantaan virus (HTNV) presented with sHLH as the first case in Shaanxi province of west China. CASE PRESENTATION: A case of HFRS in 69-year-old Chinese woman, which had persistent fever, cytopenia, coagulopathy, ferritin significantly increased, hepatosplenomegaly and superficial lymphadenopathy. The hemophagocytosis was found in bone marrow, which was consistent with the characteristics of the HLH. The patient recovered completely after timely comprehensive treatments. CONCLUSIONS: HTNV should be considered as one of the underlying viruses resulting in hemophagocytosis, and if occurs, the early diagnosis and rapid therapeutic intervention are very important to the prognosis of sHLH.


Assuntos
Febre Hemorrágica com Síndrome Renal/complicações , Febre Hemorrágica com Síndrome Renal/diagnóstico , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/etiologia , Idoso , China , Feminino , Vírus Hantaan/isolamento & purificação , Febre Hemorrágica com Síndrome Renal/virologia , Humanos , Linfo-Histiocitose Hemofagocítica/virologia
8.
Pan Afr Med J ; 32: 105, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31223395

RESUMO

Haemophagocytic lymphohistiocytosis (HLH) in Human Immunodeficiency Virus (HIV) infected individuals can either be due to the disease itself or due to associated infections/malignancies. The treatment for HLH requires immunosuppressive therapy but administering immunosuppressive therapy to an already immunosuppressed patient (HIV infection) is complex. We present two such cases of HLH in patients infected with HIV. In the first case, no alternate cause for HLH was found even after extensive investigations and it was attributed to the uncontrolled HIV replication. Patient was started on dexamethasone for the same but succumbed to hospital acquired pneumonia. The second patient was diagnosed with Hodgkin's lymphoma but he succumbed to his illness before initiating immunosuppressive therapy for HLH. We report these cases to highlight the dilemma and a need for further research in this direction.


Assuntos
Infecções por HIV/complicações , Imunossupressores/efeitos adversos , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Adulto , Dexametasona/administração & dosagem , Dexametasona/efeitos adversos , Feminino , Infecções por HIV/imunologia , Humanos , Imunossupressores/administração & dosagem , Linfo-Histiocitose Hemofagocítica/etiologia , Masculino , Pessoa de Meia-Idade
9.
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
10.
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
11.
Rinsho Ketsueki ; 60(4): 286-290, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-31068557

RESUMO

Chronic active Epstein-Barr virus infection (CAEBV) is critical owing to lethal complications such as hemophagocytic lymphohistiocytosis (HLH), multiple organ failure, and malignant lymphoma. Here we present two cases of CAEBV who developed rapid and life-threatening disease progression after cytotoxic chemotherapy. Case 1: In a 34-year-old male, CAEBV recurred after 4-month remission obtained by initial therapy with etoposide, cyclosporine, and prednisolone. Accordingly, cord blood transplantation was planned. A day after administering high-dose melphalan as the conditioning, he developed respiratory failure, pancytopenia, and hyperferritinemia. He died 3 days later. Case 2: A 53-year-old female attained remission after initial therapy for CAEBV. After 1 month, she relapsed, and high-dose cytarabine (HDAC) was administered. A day after HDAC administration, she suddenly developed respiratory failure, which was followed by multiple organ failure. She died 3 days later. Thus, planned strategy for prompt allogeneic hematopoietic stem cell transplantation is necessary to prevent disease progression and control cytokinemia before cytotoxic chemotherapy for CAEBV.


Assuntos
Infecções por Vírus Epstein-Barr/tratamento farmacológico , Adulto , Doença Crônica , Infecções por Vírus Epstein-Barr/complicações , Evolução Fatal , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Linfo-Histiocitose Hemofagocítica , Masculino , Pessoa de Meia-Idade , Insuficiência de Múltiplos Órgãos , Recidiva , Condicionamento Pré-Transplante
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(6): 592-594, 2019 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-31055813

RESUMO

OBJECTIVE: To detect genetic mutations in a child with late-onset hemophagocytic lymphohistiocytosis (HLH). METHODS: Clinical data of an 8-year-5-month-old girl with recurrent HLH and severe central nervous system disease was analyzed. Next-generation sequencing was used to detect mutation in the exons and adjacent introns of 17 genes associated with HLH. Suspected mutations were confirmed by Sanger sequencing. Influence of mutations on protein function was predicted with SIFT and PolyPhen-2 software. RESULTS: The child was found to carry compound heterozygous mutations of the PRF1 gene. Among these, the c.1349C>T (p.Thr450Met) mutation, with a SIFT predictive value of -4.921 (Deleterious variant) and a PolyPhen-2 predictive value of 1.000 (Probably damaging), was inherited from her father and known to be pathogenic. The c.1273dupT (p.Trp425fsX457) mutation was inherited from her mother and previously unreported, which resulted in the deletion of almost the entire C2 domain (amino acid residues 413 to 540) and carboxyl terminal of perforin, which seriously affected the function of the protein. CONCLUSION: The c.1349C>T (p.Thr450Met) and c.1273 dupT (p.Trp425fsX457) compound heterozygous mutations of the PRF1 gene probably underlie the disease in this patient.


Assuntos
Doenças do Sistema Nervoso Central , Linfo-Histiocitose Hemofagocítica , Criança , Éxons , Feminino , Humanos , Mutação , Perforina
14.
Ann Lab Med ; 39(5): 430-437, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31037861

RESUMO

BACKGROUND: T cell immunophenotypes in patients with hemophagocytic lymphohistiocytosis (HLH) have been described. Downregulation of CD5 or CD7 on T cells has been reported in patients with Epstein-Barr virus (EBV)-positive HLH. As the utility of T cell immunophenotypes as an adjunctive diagnostic or a prognostic marker for HLH has not been evaluated, we analyzed T cell immunophenotypes in HLH patients for this purpose. METHODS: We classified 45 HLH patients into three subgroups: EBV-positive HLH (N=27), EBV-negative secondary HLH (N=15), and familial HLH (N=3). We retrospectively characterized downregulation patterns of CD5 or CD7 on activated T cells, using flow cytometry. Overall survival was estimated using Kaplan-Meier curves and compared using the log-rank test. RESULTS: An aberrant immunophenotype, including CD5 and/or CD7 downregulation on T cells, was observed in 55.6% (15/27) of the EBV-positive HLH patients and 100% of the familial HLH (3/3). Only one (1/15, 6.7%) patient with EBV-negative secondary HLH showed an aberrant loss of CD7 antigen on CD8+ T cells. The presence of an aberrant T cell immunophenotype was not related to overall survival in EBV-positive HLH and EBV-negative secondary HLH patients. CONCLUSIONS: An aberrant T cell immunophenotype may assist in discriminating EBV-negative secondary HLH and EBV-positive HLH. However, it may not be useful as a prognostic marker.


Assuntos
Linfócitos T CD8-Positivos/metabolismo , Linfo-Histiocitose Hemofagocítica/diagnóstico , Adolescente , Adulto , Idoso , Antígenos CD7/metabolismo , Antígenos CD5/metabolismo , Linfócitos T CD8-Positivos/citologia , Linfócitos T CD8-Positivos/imunologia , Criança , Pré-Escolar , Feminino , Citometria de Fluxo , Herpesvirus Humano 4/isolamento & purificação , Humanos , Imunofenotipagem , Lactente , Estimativa de Kaplan-Meier , Linfo-Histiocitose Hemofagocítica/imunologia , Linfo-Histiocitose Hemofagocítica/mortalidade , Linfo-Histiocitose Hemofagocítica/virologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
15.
Pan Afr Med J ; 32: 43, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31143348

RESUMO

Histoplasmosis is an endemic mycosis with global distribution, primarily reported in immunocompromised individuals. A 29-year old immunocompetent male presented with fever, hepatosplenomegaly and pancytopenia. His peripheral blood showed features suggestive of intravascular hemolysis and echocardiography showed features suggestive of pulmonary arterial hypertension. Bone marrow showed yeast with morphology suggestive of Histoplasma capsulatum. Further investigations revealed hyperferritinemia, hypofibrinogenemia and increased triglycerides. With a diagnosis of progressive disseminated histoplasmosis with secondary Haemophagocytic lymphohistiocytosis, he was successfully treated with amphotericin B followed by itraconazole. We report this case to highlight the atypical and rare manifestations of histoplasmosis.


Assuntos
Antifúngicos/administração & dosagem , Insuficiência Cardíaca/etiologia , Histoplasmose/diagnóstico , Linfo-Histiocitose Hemofagocítica/etiologia , Adulto , Anfotericina B/administração & dosagem , Febre/etiologia , Hemólise , Hepatomegalia/etiologia , Histoplasmose/complicações , Histoplasmose/tratamento farmacológico , Humanos , Imunocompetência , Itraconazol/administração & dosagem , Masculino , Pancitopenia/etiologia , Esplenomegalia/etiologia
17.
Indian J Pathol Microbiol ; 62(2): 279-282, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30971555

RESUMO

Griscelli syndrome is a rare autosomal recessive inherited disorder characterized by hypopigmentation, silver colored hair, and associated immunological deficiency, which proves fatal in the absence of timely intervention. Our patients diagnosed with Griscelli syndrome-2 presented with fever, hepatosplenomegaly, and deranged hematological and biochemical parameters. Both cases underwent detailed investigations comprising of hair mount microscopic examination, degranulation assay, and mutational studies. Our cases showed defective degranulation activity by NK cells and gene mutation analysis revealed RAB27A mutation that causes defect of cytotoxic granule exocytosis from natural killer (NK) and T-cells, manifesting clinically as hemophagocytic lymphohistiocytosis (HLH). Hematopoietic stem cell transplantation in one of the patients resulted in stable chimerism; however, the second case relapsed within a month after SCT. Stem cell transplantation is the only curative therapeutic option for GS2; thus, improvement in posttransplantation management may reduce mortality and posttransplant complications. Hence, any child who presents with partial albinism and clinical features suggestive of HLH, a peripheral blood, hair shaft mount examination along with basic immunological NK and T-cell cytotoxicity assay by flow cytometry will help clinch the diagnosis early. It can subsequently be confirmed by molecular study. Timely therapeutic intervention can prevent relapses and severe infection and improve outcome in these cases.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/terapia , Linfo-Histiocitose Hemofagocítica/genética , Linfo-Histiocitose Hemofagocítica/terapia , Piebaldismo/genética , Piebaldismo/terapia , Pré-Escolar , Feminino , Cabelo , Humanos , Síndromes de Imunodeficiência/patologia , Células Matadoras Naturais/patologia , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/patologia , Masculino , Mutação , Piebaldismo/patologia , Resultado do Tratamento , Proteínas rab27 de Ligação ao GTP/genética
18.
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
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