RESUMO
Hypoprothrombinemia-lupus anticoagulant syndrome (HLAS) is a rare disease in which patients present with varying degrees of bleeding and positive lupus anticoagulant with reduced prothrombin on laboratory tests. This article reports a case of HLAS in a middle-aged woman with recurrent gingival bleeding and epistaxis as the first presentation. After admission, tests revealed prolonged prothrombin time (PT), activated partial thromboplastin time (APTT), and reduced coagulation factor II activity, and positive lupus anticoagulant (LA). Meanwhile, the patient had symptoms of dry mouth and dry eyes for a long time, and the examination of autoantibodies, tear secretion test and salivary gland emission computed tomography (ECT) were consistent with the diagnosis of Sjogren's syndrome. The final diagnosis was HLAS secondary to Sjogren's syndrome. After treatment with methylprednisolone and cyclophosphamide, the coagulation disorder gradually improved, and no recurrent bleeding occurred. HLAS is a rare clinical case, which reminds medical staff to be alert to the possibility of HLAS when encountering patients with unexplained prolonged APTT and PT and positive lupus anticoagulant.
Assuntos
Transtornos Herdados da Coagulação Sanguínea , Hipoprotrombinemias , Síndrome de Sjogren , Pessoa de Meia-Idade , Feminino , Humanos , Hipoprotrombinemias/complicações , Hipoprotrombinemias/diagnóstico , Síndrome de Sjogren/complicações , Síndrome de Sjogren/diagnóstico , Inibidor de Coagulação do Lúpus , AutoanticorposRESUMO
Acute promyelocytic leukemia (APL) is a unique disease entity in acute myeloid leukemia, characterized by PML-RARA fusion gene, which is generated by chromosomal translocation t(15;17)(q24;q21). We identified TNRC18-RARA as novel RARA fusion in resembling APL. Our study highlights the importance of combining multiple molecular techniques to characterize and optimally manage APL lacking classic t(15;17)(q24;q12)/PML-RARA fusion.
Assuntos
Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 17/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Leucemia Promielocítica Aguda/genética , Proteínas de Fusão Oncogênica/genética , Receptor alfa de Ácido Retinoico/genética , Translocação Genética , Regulação Leucêmica da Expressão Gênica , Humanos , Hibridização in Situ Fluorescente , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Leucemia Promielocítica Aguda/metabolismo , Leucemia Promielocítica Aguda/patologia , Masculino , Pessoa de Meia-Idade , Proteínas de Fusão Oncogênica/metabolismo , Receptor alfa de Ácido Retinoico/metabolismoRESUMO
PURPOSE: To evaluate the efficacy and safety of erythrocytapheresis (ECP) in the treatment of polycythemia. METHODS: Patients diagnosed with polycythemia were included in this retrospective analysis and treated with ECP (n=20) or conventional treatments (exsanguination; n=20). Blood laboratory values and adverse effects were recorded. RESULTS: In ECP-treated patients mean red blood cell (RBC) collection time was 25.7±4.5min (range: 19-37min), with a mean collection volume of 773.5±129.3mL (range: 600-1002mL). From baseline, ECP reduced the mean number of RBCs (0.6×10(12)/L [7.6%]), mean hemoglobin (31.1g/L [14.8%]), and mean hematocrit (13.1% [20.2%]) (P<0.001 for each). After ECP, a marked reduction in symptoms associated with polycythemia was also observed. CONCLUSIONS: Treatment of patients with polycythemia using ECP reduces RBC count, hemoglobin, and hematocrit. The advantages associated with ECP over conventional therapy should be considered when choosing a treatment plan for patients with polycythemia.