Asunto(s)
Progresión de la Enfermedad , Linfoma de Células T Asociado a Enteropatía/diagnóstico , Citometría de Flujo , Intestino Delgado/diagnóstico por imagen , Adulto , Recuento de Células , Clavícula/patología , Linfoma de Células T Asociado a Enteropatía/diagnóstico por imagen , Linfoma de Células T Asociado a Enteropatía/patología , Linfoma de Células T Asociado a Enteropatía/cirugía , Humanos , Intestino Delgado/patología , Intestino Delgado/cirugía , MasculinoAsunto(s)
Cromosomas Humanos Par 19/genética , Cromosomas Humanos Par 21/genética , Eosinofilia , Leucemia Mieloide Aguda , Translocación Genética , Eosinofilia/genética , Eosinofilia/patología , Humanos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/patología , Masculino , Persona de Mediana EdadRESUMEN
Severe thrombocytopenia secondary to cytomegalovirus (CMV) infection is rare in immunocompetent hosts. We describe a case of severe thrombocytopenia secondary to CMV infection in an immunocompetent 30-year-old man who presented with pyrexia and bleeding tendency. A diagnosis of immune thrombocytopenia (ITP) was made following hematological and serological testing, and bone marrow aspiration. Acute CMV infection was confirmed by serological testing, antigenemia, and detection of CMV-DNA. Corticosteroid therapy was ineffective and intravenous immunoglobulin (IVIG) was therefore administered. This resulted in immediate recovery of the platelet count and cessation of nasal bleeding. Early IVIG administration should be considered in steroid-resistant cases.
Asunto(s)
Infecciones por Citomegalovirus/complicaciones , Trombocitopenia/etiología , Corticoesteroides/uso terapéutico , Adulto , Infecciones por Citomegalovirus/inmunología , Resistencia a Medicamentos , Humanos , Inmunocompetencia , Inmunoglobulinas Intravenosas/uso terapéutico , Masculino , Trombocitopenia/inmunología , Trombocitopenia/terapiaRESUMEN
Coagulation factor V (FV) deficiency is a rare bleeding disorder characterized by low coagulant and antigen levels of FV with bleeding symptoms ranging from mild to severe. Only a limited number of mutations have been reported because of the large size of the factor V gene (F5) as well as the low prevalence. In this study, we have identified four novel mutations in F5 in five unrelated patients with congenital FV deficiency. All the patients, including two with undetectable FV activity, were asymptomatic and were found to have prolonged prothrombin time and activated partial thromboplastin time during preoperative screening or routine examinations. All four mutations found in this study are either missense or in-frame deletion. This is in contrast with previous reports of a high frequency of mutations introducing premature termination codons in inherited FV deficiency. Missense mutations of F5 might produce a mild phenotype and are not frequently diagnosed. Although FV deficiency is a very rare disorder with a predicted incidence of one in 1 million, this study suggests that the numbers of F5 mutations, especially missense mutations, are higher than estimated.