Portal Vein Thrombosis and High Factor VIII in Turner Syndrome

Abstract

Backgrounds/Aims: Turner syndrome is not usually associated with thrombotic events. The aim of this study is to report 3 Turner syndrome patients with portal vein thrombosis and, in 2 of them, high factor VIII. These findings are compared to values in Turner syndrome patients without thrombosis and controls. Methods: In different years, 3 patients with Turner syndrome were initially seen at the Gastroenterology Clinic of Hospital de Clínicas de Porto Alegre, Brazil, for portal vein thrombosis. After the most common causes of portal vein thrombosis and thrombophilias had been excluded, the 2 surviving patients were studied for clotting factors VIII, IX and von Willebrand factor. The same factors were also assessed in 25 Turner syndrome patients without thrombosis and 25 normal girls. Results: One of the patients with portal vein thrombosis died before the study. In the 2 surviving patients, factors VIII and von Willebrand levels were >150 IU/dl, which is considered to be high. In Turner syndrome patients without thrombosis, the mean factor VIII level was 127.2 ± 41.1 IU/dl and for von Willebrand factor 101.2 ± 26.9 IU/dl, while in control girls these were 116.0 ± 27.6 and 94.28 ± 27.5 IU/dl, respectively. Factor VIII and von Willebrand factor were not different between these 2 groups. When non-O blood group Turner syndrome patients and normal girls were compared, the former had significantly higher levels of factor VIII. Conclusions: This is the first report on the unusual finding of portal thrombosis in patients with Turner syndrome in whom high levels of factor VIII and von Willebrand factor were found. Factor VIII is higher in the non-O blood group Turner syndrome patients without thrombosis when compared to normal girls.

Coagulation and fibrinolytic disturbances are related to carotid intima thickness and arterial blood pressure in Turner syndrome

“…The premise for the current study was a number of case reports on thrombosis in different vascular beds, 5–11 with inconsistent results of thrombophilia investigation. In addition, accumulating evidence suggests that premature ischaemic heart disease is present in patients with TS 2–4 .…”

“…One of these cases was a heterozygote of the prothrombin variant (G20210A), 5 which is known to be linked with increased risk of thrombosis, 8,9 while no thrombophilia‐related defects were reported in the other cases. In addition, a case of venous thrombosis formation was thought to be attributable to low protein S levels during oestrogen treatment, 10 and portal vein thrombosis has been noted in three young women with TS in whom high levels of clotting factor VIII seemed to be contributory 11 . One of these patients died because of complications of portal hypertension.…”

A Case of Turner Syndrome with Multiple Embolic Infarcts

“…A hypercoagulable state could be considered a contributing factor of thromboembolism in TS. Some case reports have described deep venous thrombosis and portal vein thrombosis in TS [ 11 , 12 ]. Abnormalities in clotting and fibrinolytic factor levels are seen in some TS patients.…”

Ascites in the Puerperium in the Context of a Woman with Turner Syndrome Who Conceived through Assisted Reproductive Technology

“…Furthermore, when the levels of factor VIII of the coagulation cascade are above 150 IU/dL, there is a 4 times higher risk of thrombosis [ 14 ]. Related to that, in a case report of a woman with TS who presented with portal vein thrombosis it has been shown that factor VIII was elevated, as well as the v-Willebrand factor [ 15 ]. This has also been reported in a second case report of a 14-year-old girl from Libya who presented with portal vein thrombosis and the factors VIII and v-Willebrand were found to be elevated [ 16 ].…”

“…This has also been reported in a second case report of a 14-year-old girl from Libya who presented with portal vein thrombosis and the factors VIII and v-Willebrand were found to be elevated [ 16 ]. Further investigations in TS cases without thrombotic incidents documented that the TS subpopulation of non-O blood group exhibit higher factor VIII values than a control group of normal women [ 15 ].…”