RESUMEN
Budd Chiari syndrome or hepatic venous outflow obstruction is a complex entity with multiple etiologies and various clinical manifestations. It is often difficult to establish the diagnosis. The most common cause is a hypercoagulable state due to either genetic disorders of blood coagulation or several acquired conditions such as hematological diseases, tumors, infections, chronic inflammatory diseases, pregnancy. The most common clinical presentation is hepatomegaly, abdominal pain and ascites, but the onset can also be dramatical and life threatening with upper digestive bleeding due to portal hypertension through postsinusoidal blockage. We report the case of a young patient with a coagulation disorder secondary to a mutation of factor V Leiden, who presented with upper digestive bleeding as the first manifestation of Budd Chiari syndrome and who also was associated with myocardial infarction in his past medical history.
Asunto(s)
Trastornos de la Coagulación Sanguínea Heredados/complicaciones , Coagulación Sanguínea/genética , Síndrome de Budd-Chiari/etiología , Factor V/genética , Hemorragia Gastrointestinal/etiología , Hipertensión Portal/etiología , Mutación , Adulto , Anticoagulantes/uso terapéutico , Coagulación Sanguínea/efectos de los fármacos , Trastornos de la Coagulación Sanguínea Heredados/sangre , Trastornos de la Coagulación Sanguínea Heredados/diagnóstico , Trastornos de la Coagulación Sanguínea Heredados/tratamiento farmacológico , Trastornos de la Coagulación Sanguínea Heredados/genética , Síndrome de Budd-Chiari/sangre , Síndrome de Budd-Chiari/diagnóstico , Síndrome de Budd-Chiari/tratamiento farmacológico , Análisis Mutacional de ADN , Humanos , Hipertensión Portal/diagnóstico , Masculino , Valor Predictivo de las Pruebas , Resultado del Tratamiento , Ultrasonografía Doppler en ColorRESUMEN
Langerhans'cell histiocytosis (Histiocytosis X) is a rare disease of unknown cause characterized by oligoclonal proliferation of Langerhans cells. It occurs mostly in children and young adults and involves one or more body systems such as bone, hypothalamus, posterior pituitary gland, lymph nodes, liver or various soft tissues. The diagnosis is always made by a histological approach. We report a case of Langerhans'cell histiocytosis in a young patient with clinical signs of diabetes insipidus and hepatic involvement in whom the immunohistochemical analysis of the liver tissue led to the definitive diagnosis.