RESUMO
Bleeding disorders are commonly associated with hemato-oncologic diseases. We report a 68 years old male with a chronic myelomonocytic leukemia derived from a long lasting mielodysplastic syndrome that did not respond to treatment with Azacitidine. The patient was hospitalized due to tonic clonic seizures. A CAT scan showed a hematoma in the frontal lobe. A new assessment of hemostasis revealed an isolated deficiency of Factor X. We speculate that this deficit could be secondary to consumption due to the chronic Myelomonocytic Leukemia.
Assuntos
Idoso , Humanos , Masculino , Deficiência do Fator X/etiologia , Lobo Frontal/lesões , Leucemia Mielomonocítica Crônica/complicações , Antimetabólitos Antineoplásicos/uso terapêutico , Azacitidina/uso terapêutico , Deficiência do Fator X/diagnóstico , Hematoma/diagnóstico , Leucemia Mielomonocítica Crônica/tratamento farmacológico , Leucócitos , Monócitos , Convulsões/complicaçõesRESUMO
Amyloidosis is a heterogeneous group of diseases in which misfolding of extracellular proteins is the pathogenic factor. Light chain amyloidosis (AL) is the most common form of amyloidosis, and the causative proteins in AL are the immunoglobulin light chains produced by clonal plasma cells. Hemorrhagic events, ranging from mild subcutaneous hemorrhage to life-threatening bleeding, account for a significant proportion of morbidities and mortality in AL patients. Deficiency of factor X from deposition into amyloid fibrils has been reported to be the most common acquired factor deficiency in AL. We herein report 2 patients with acquired factor X deficiency in AL. A 55-yr-old woman with AL had a prolonged prothrombin time (PT) and an activated partial thromboplastin time (aPTT) of 2.51 International Normalized Ratio (INR) and 75.1 sec, respectively, which were corrected on mixing with normal plasma. Factor X activity was markedly decreased at 5%. The other patient was a 67-yr-old man with AL with a PT of 1.63 INR and an aPTT of 50.3 sec, which were corrected on mixing with normal plasma. Factor X activity was decreased at 17%. Neither of the patients had apparent hemorrhagic manifestations. Identification of acquired factor deficiency and timely coagulation tests are needed in the diagnostic workup and management in AL.
Assuntos
Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Amiloidose/complicações , Fator X/metabolismo , Deficiência do Fator X/diagnóstico , Transplante de Células-Tronco Hematopoéticas , Cadeias Leves de Imunoglobulina/metabolismo , República da Coreia , Transplante AutólogoRESUMO
Amyloidosis is a heterogeneous group of diseases in which misfolding of extracellular proteins is the pathogenic factor. Light chain amyloidosis (AL) is the most common form of amyloidosis, and the causative proteins in AL are the immunoglobulin light chains produced by clonal plasma cells. Hemorrhagic events, ranging from mild subcutaneous hemorrhage to life-threatening bleeding, account for a significant proportion of morbidities and mortality in AL patients. Deficiency of factor X from deposition into amyloid fibrils has been reported to be the most common acquired factor deficiency in AL. We herein report 2 patients with acquired factor X deficiency in AL. A 55-yr-old woman with AL had a prolonged prothrombin time (PT) and an activated partial thromboplastin time (aPTT) of 2.51 International Normalized Ratio (INR) and 75.1 sec, respectively, which were corrected on mixing with normal plasma. Factor X activity was markedly decreased at 5%. The other patient was a 67-yr-old man with AL with a PT of 1.63 INR and an aPTT of 50.3 sec, which were corrected on mixing with normal plasma. Factor X activity was decreased at 17%. Neither of the patients had apparent hemorrhagic manifestations. Identification of acquired factor deficiency and timely coagulation tests are needed in the diagnostic workup and management in AL.
Assuntos
Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Amiloidose/complicações , Fator X/metabolismo , Deficiência do Fator X/diagnóstico , Transplante de Células-Tronco Hematopoéticas , Cadeias Leves de Imunoglobulina/metabolismo , República da Coreia , Transplante AutólogoRESUMO
Stuart Prower factor (Factor X) deficiency is a rare hereditary autosomal recessive coagulation disorder. We have come across three cases in the course of last 20 years at our institute. These patients presented with prolonged bleeding after minor trauma, epistaxis, subcutaneous bluish black nodules and two of them presented with history of consanguinity in parents. Hematological findings in correlation with clinical manifestations revealed severe factor X deficiency.
Assuntos
Adolescente , Testes de Coagulação Sanguínea , Pré-Escolar , Deficiência do Fator X/diagnóstico , Humanos , Índia , Lactente , MasculinoRESUMO
Two brothers born to same parents were diagnosed with inherited factor X deficiency of severe type. Clinical presentation in both the cases were haemarthrosis. The elder brother was diagnosed in the year 1991 when he was four and half years old. Recently the youngest child in the family also presented with haemarthrosis at age of one and half years. Diagnosis was made by abnormal results of Coagulation factors screening mainly Prothrombin time, Activated partial thromboplastin time, Russell's viper venom test, mixing tests factor X assay. Both the brothers had Factor X activity less than one percent.