RESUMO
The diagnostic and therapeutic approach for an unusual clinical situation is presented. Twenty-three-year-old female patient is evaluated for hematuria and metrorrhagia. She reported irregular follow-up with hematology because of bleeding in childhood. She has also been receiving factor VII for 2âyears, denying hospitalizations because of bleeding. Laboratory reported hb: 5.2âg/dl; platelets: 234â000/mm 3 ; PT: 100âs; PTT: 112âs, fibrinogen: 90âmg/dl without other alterations. Abdominal ultrasound reported uterine myoma, urinalysis was pathological. The gynecology indicated oral progesterone. She started antibiotic therapy, transfusion of red-blood cells, plasma, and cryoprecipitates and subsequently reported: factor VII: 2%, IX: 1% and VIII: 70%. She received factor VII-recombinant (rFVII), achieving resolution of bleeding. She was prescribed prophylactic rFVII and hematology monitoring. Readmission due to acute abdomen with Hb 5âg/dl, prolonged prothrombin time (PT)/partial thromboplastin time (PTT) and abdominal tomography reported hemoperitoneum. She received rFVII and required laparotomy and left oophorectomy. Then readmission to metrorrhagia, hb6âg/dl, prolonged PT/PTT and factor VII-IX of two coagulation factors were reported, without reports found in the literature consulted.
Assuntos
Transtornos Herdados da Coagulação Sanguínea , Fator IX , Deficiência do Fator VII , Adulto , Feminino , Humanos , Adulto Jovem , Fator VII/uso terapêutico , Deficiência do Fator VII/complicações , Deficiência do Fator VII/tratamento farmacológico , Hematúria/etiologia , Proteínas Recombinantes/uso terapêutico , Transtornos Herdados da Coagulação Sanguínea/complicações , Transtornos Herdados da Coagulação Sanguínea/tratamento farmacológicoRESUMO
Paradoxically, there are reports of thrombotic events for some rare bleeding disorders associated with significant bleeding tendency. Afibrinogenemia, factor (F) VII, or FXI deficiencies are those most commonly associated with venous or arterial thrombosis. Pathogenesis is multifactorial and the main conditions associated with this complication relate to the coexistence of inherited or acquired thrombotic risk factors linked to certain specific characteristics of the underlying defect. Patients with afibrinogenemia can develop severe, spontaneous, or recurrent thromboembolic disease. Up to 20% of congenital dysfibrinogenemia patients show predisposition to thrombosis. Thrombotic episodes, particularly deep vein thrombosis, have been reported in 3 to 4% FVII deficient patients, even those who were severely affected. These events have been reported either after infusion of plasma derived FXI concentrate or recombinant activated FVII in FXI deficient patients. So, in addition to factor level, replacement therapy must be individualized and should take into account past personal or family history of bleeding and thrombosis, and other prothrombotic risk factors. Treatment of thrombosis represents a challenge. For mild factor deficiencies, antithrombotic prophylaxis must be considered with or without concomitant use of replacement therapy. For all patients, it is also recommended to control known cardiovascular disease risk factors.
Assuntos
Transtornos da Coagulação Sanguínea/complicações , Guias de Prática Clínica como Assunto , Trombose/complicações , Trombose/terapia , Afibrinogenemia/complicações , Deficiência do Fator VII/complicações , Deficiência do Fator XI/complicações , Humanos , Fatores de Risco , Trombose/diagnósticoRESUMO
Inherited deficiencies of blood coagulation factors are usually associated with lifelong bleeding tendency. In addition to Haemophilias A and B and von Willebrand disease, congenital deficiencies of such factors as fibrinogen, prothrombin (FII)), FV, FVII, FX, FXI, FXIII, and combined deficiencies occur and can lead to a diversity of clinical conditions. Paradoxically, for some of these disorders associated with significant bleeding tendency there are reports of thrombotic events, both arterial and venous. Thrombosis in hemophilia patients has a multifactorial pathogenesis and the main conditions associated with this complication are the use of long-term central venous catheters, intensive replacement therapy usually in the setting of surgical procedures, the use of bypassing agents or the coexistence of acquired or inherited prothrombotic risk factors. Regarding other rare bleeding disorders, thrombotic phenomena has been described particularly in patients with afibrinogenemia, FXI and FVII deficiency and the events can occur even in young patients, in the presence of concomitant risk factors or spontaneously. Replacement therapy must be individualized and should take into account past history of haemostatic challenges, family history of bleeding and thrombosis, just like the level of factor. For mild deficiencies when patients are asymptomatic the use of antithrombotic prophylaxis must be considered with or without concomitant use of replacement therapy. In patients with history of thrombosis it may be helpful to perform a thrombophilia screening to exclude coexisting prothrombotic defects and for all patients it is recommended to control known cardiovascular disease risk factors.