Assuntos
Doenças Autoimunes/diagnóstico , Mielofibrose Primária/diagnóstico , Aplasia Pura de Série Vermelha/etiologia , Doenças Autoimunes/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Mielofibrose Primária/imunologia , Mielofibrose Primária/patologia , Aplasia Pura de Série Vermelha/imunologiaAssuntos
Transfusão de Sangue , Deficiência do Fator V , Fator V , Humanos , Transfusão de PlaquetasRESUMO
Autoimmune myelofibrosis (AIMF) is a rare entity of steroid-responsive bone marrow fibrosis that accompanies a variety of autoimmune diseases, particularly systemic lupus erythematosus (SLE). Rarely it may occur in patients with autoimmune markers but no definable autoimmune disease (Primary-AIMF). We report the cases of two young women with SLE-associated AIMF (SLE-AIMF). The first patient was a young woman who had pancytopenia, massive splenomegaly and reticulin fibrosis in the marrow biopsy. The pancytopenia and splenomegaly resolved completely within weeks of treatment with corticosteroids. Repeat marrow biopsy showed marked regression of marrow fibrosis. The second patient was a young woman with fever, anasarca, bicytopenia and reticulin fibrosis in the marrow biopsy. Steroid therapy resulted in rapid clinical improvement and resolution of pancytopenia. A review of the literature revealed a total of 30 patients with SLE-AIMF reported to-date. Patients with SLE-AIMF are young women with SLE and blood cytopenia who are found to have increased bone marrow reticulin on marrow biopsy. Steroid therapy results in rapid hematological recovery and regression of marrow fibrosis. Whether AIMF is one of several hematological complications of SLE, or represents a unique and distinct subset of patients with SLE in not clear. Prospective studies with longer follow-up are needed to better define the prevalence and clinical spectrum of SLE-AIMF.
Assuntos
Doenças Autoimunes/patologia , Mielofibrose Primária/patologia , Feminino , Humanos , MasculinoAssuntos
Citocromo-B(5) Redutase/deficiência , Metemoglobinemia/diagnóstico , Oximetria , Oxigênio/metabolismo , Policitemia/diagnóstico , Citocromo-B(5) Redutase/genética , Citocromo-B(5) Redutase/metabolismo , Diagnóstico Diferencial , Humanos , Masculino , Metemoglobinemia/complicações , Metemoglobinemia/genética , Metemoglobinemia/metabolismo , Policitemia/complicações , Policitemia/genética , Policitemia/metabolismo , Adulto JovemRESUMO
A 45-year-old man presented to the clinic with the chief complaints of low back pain, marked weight loss, and pallor of 2 months duration. He was found to have severe normocytic anemia with leukoerythroblastosis. Bone marrow aspirate resulted in a dry tap. Marrow trephine biopsy showed findings initially interpreted as poorly differentiated carcinoma involving marrow. Immunohistochemistry and protein studies established a diagnosis of IgG Kappa multiple myeloma. Correlation of marrow biopsy findings with clinical, radiological and immunological data remain an essential part of the diagnostic evaluation of multiple myeloma.