Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited. Vena porta thrombosis in patient with inherited factor VII deficiency Jolanta Klovaite a , Lennart Friis-Hansen a , Fin S. Larsen b , Nielsaage Toffner-Clausen c and Ole W. Bjerrum d Most clotting factor VII (FVII)-deficient patients suffer from bleeding episodes and occasionally thromboembolic complications after surgical interventions or replacement therapy. However, thromboses without apparent triggering factors may occur as well. We report a case of a pregnant woman with inherited FVII deficiency and chronic vena porta thrombosis. She presented at 32 weeks of gestation with spontaneously increased international normalized ratio, severe thrombocytopenia and very few unspecific symptoms. The extensive examination of the patient revealed cavernous transformation of the portal vein with well expressed portosystemic collaterals, heterozygosity for three common polymorphisms in FVII gene, associated with reduction in plasma FVII levels, and no other factors predisposing to thrombosis. Blood Coagul Fibrinolysis 21:285–288 ß 2010 Wolters Kluwer Health | Lippincott Williams & Wilkins. Blood Coagulation and Fibrinolysis 2010, 21:285–288 Keywords: factor VII deficiency, thrombocytopenia in pregnancy, vena porta thrombosis a Department of Clinical Biochemistry, b Department of Hepatology, Rigshospitalet, University of Copenhagen, c Medical Unit I, Dept Hematology, Hilleroed Hospital and d Department of Hematology, Rigshospitalet, University of Copenhagen, Denmark Correspondence to Jolanta Klovaite, Department of Clinical Biochemistry, Herlev Hospital, Herlev Ringvej 75, DK-2730 Herlev, Denmark Tel: +45 4488 3307; fax: +45 4488 3311; e-mail: JOLKLO01@heh.regionh.dk Received 28 September 2009 Revised 15 December 2009 Accepted 16 December 2009 Introduction Congenital clotting factor VII (FVII) deficiency is inher- ited as an autosomal recessive trait and is the most common among the rare inherited coagulation disorders. Clinical manifestations vary widely. Generally it is con- sidered to be a hemorrhagic disorder, characterized by poor correlation of factor level with bleeding. Some individuals with very low levels of FVII do not bleed. Others with higher levels have severe hemarthroses or even lethal cerebral hemorrhages [1]. Recent evidences suggest that low levels of FVII do not protect from high thrombosis risk factors such as surgery and replacement therapy. Moreover, in rare cases FVII- deficient patients present with spontaneous arterial or venous thromboses [2,3]. Case report In January 2005, a 30-year-old primaparous woman of Indian origin at 32 weeks of gestation was admitted to our hospital with symptoms of lower urinary tract infection and severe thrombocytopenia. The patient complained only of mild lower urinary tract discomfort. Apart from this, for the period of the last few months, she had occasional nasal bleeds and a slight tendency to easy bruising all the time. The patient was otherwise well. Physical examination revealed no abdominal tenderness and no signs of bleeding or thrombosis. Blood pressure was 120/60 mmHg, heart rate was 80 b.p.m. and tempera- ture was 37.38C. Laboratory blood analysis showed low platelet count (39 Â 10 9 /l, normal 150–400 Â 10 9 /l), slightly increased international normalized ratio (INR) (1.7, normal <1.3) and elevated D-dimer (3.7 mg/l, nor- mal <0.5 mg/l). Activated partial thromboplastin time (APTT) and fibrinogen were normal. Plasma liver enzymes, total bilirubin, albumin and creatinine level were also within reference range. The patient did not have anemia, vitamin B12 or folic acid deficiency. Infec- tion parameters were not elevated. Urine examination showed traces of leucocyturia, microscopic hematuria but no traces of proteinuria. Sonography of the kidneys and the urinary tract was normal and fetal monitoring detected no signs of distress. No laboratory test results obtained before the pregnancy were available. The family history was not accessible. The patient had been adopted at the age of 9 months from India to Denmark. Ten years ago the patient was hospitalized in another institution because of sudden worsening epigastric pain and pain in the right upper quadrant. The pain evolved over few weeks from vague discomfort. Intravenous urography detected a stone in the right renal pelvis with consequent mild obstruction and she was treated with extracorporeal shock wave lithotripsy. Abdominal ultra- sound examination detected a 2 cm hypoecchoic process behind the pancreas. During 11 days of the actual hospitalization her clinical status and biochemistry were without significant changes. There was no evidence of hemolysis. Activity of the Case report 285 0957-5235 ß 2010 Wolters Kluwer Health | Lippincott Williams & Wilkins DOI:10.1097/MBC.0b013e3283370166