Long-term survival of patients with a history of venous thromboembolism.

Limited data are available regarding long-term survival following venous thromboembolism (VTE). The objectives of this study are to evaluate long-term survival by retrospective survival analysis in patients with a history of VTE and to compare their survival with that of the general population. Patients with a history of VTE (min. 3 months after VTE) without cancer, who were referred to our department between 1994 and 2007, were included in the analysis. Information concerning mortality was available through the Austrian Central Death Register. The survival of patients was compared with that of the age- and gender-matched general Austrian population. Three thousand two hundred-nine patients (mean age, 46.2; range, 14-89 years) were included. Median time interval between the first VTE and inclusion was 14 months; median observation period was 6.6 years. During the considered time period, 169 patients (5.3%) died. The cumulative survival in patients was 0.97 and 0.87 after 5 and 10 years; men had a higher death rate than women; patients with idiopathic VTE had a less favourable survival than those with a triggering event. When patients were compared to the general population, the cumulative relative survival was 1.02 (95% CI 1.00-1.03). In none of the analysed subgroups (different sites of VTE; idiopathic vs. secondary VTE) was a reduced cumulative relative survival found. The relative survival of male patients was even slightly better, whereas that of women equalled that of the normal population. Our results indicate that after the initial phase, VTE does not seem to impair long-term survival of patients with a history of VTE without cancer.

Long-term survival after venous thromboembolism: a retrospective selected cohort study among young women.

Few data are available on long-term survival following venous thromboembolism. We performed a retrospective survival analysis covering the period January 1985 to December 2006 in 728 young women (median age 28.7 years; interquartile range 21.6-36.3 years) with a history of venous thromboembolism who visited our clinic between 1985 and 1998. Mortality information was obtained from the Austrian Central Death Register. Survival of our patients was compared to the general Austrian female population after adjustment for age and calendar period. Overall, 23 patients (3.2%) died, the cumulative relative survival was 1.03 (95% CI 0.99-1.04). Site of venous thromboembolism or triggering factors had no significant influence. Venous thromboembolism does not reduce long-term survival in young women considering our median follow up of 14 years. The risk of fatal bleeding and quality of life should be assessed versus that of fatal recurrent venous thromboembolism when deciding on long-term anticoagulation in young women.

Spectrum of causative mutations in patients with haemophilia A in Austria.

In patients with haemophilia A knowledge of the pathogenetic mutation is important i) as basis for carrier diagnosis and ii) for risk estimation of inhibitor formation. The pathogenetic mutations were identified by testing inversions in intron 1 and 22 (IVS22 and IVS1) and sequencing part of the promoter, the coding region and the exon/intron boundaries in a cohort of Austrian haemophilia A patients. A total of 239 patients from nine participating centres, who had consented to genetic testing and of whom clinical information was available were included in the study. First, IVS22 and IVS1 were tested; in case of absence of either inversion patients were subjected to sequencing. Mutations within the FVIII gene were identified in 234 patients. Notably, 53 mutations had not previously been described in HAMSTeRS. Of our patient cohort, 72.5 % had either an IVS22 or a missense mutation. Interestingly, in three brothers with severe haemophilia, we found a double mutation in exon 14 (missense + small deletion). The spectrum of mutations in Austrian haemophilia A patients was comparable to that found in the German and Italian population; however, it differed from the spectrum reported in the UK. In conclusion, 53 not previously published mutations were identified in Austrian haemophilia A patients. The occurrence of double mutations in the factor VIII gene could be confirmed and their low frequency was corroborated. We speculate that the differences between mutations in Austria and other European countries are due to ethnic diversity. Detailed investigations of the association of ethnicity and the mutation spectrum are planned.

Austrian Hemophilia Registry: design, development and set of variables.

Patient registries are databases essential for identifying and tracking individuals with a particular disease and for collecting epidemiological information. The data obtained are necessary for quality control and quality assurance in treatment and for studying the impact of new developments on prevention, diagnosis and treatment. The Austrian Hemophilia Registry is a joint initiative between Austrian hemophilia treaters, represented by the Austrian Hemophilia Society's scientific advisory board, and the Austrian Hemophilia Society (OHG). The registry's main objective is to record information on patients with hemophilia, such as severity of disease, types of treatment and general health status. The registry also aims to improve the planning of supply of factor concentrates and to provide an instrument for early detection of side effects, such as an increase in inhibitor development or certain infections. The registry consists of three parts: the first contains basic information on quality control, the second contains extended data for quality control collected annually, and the third, "study part", covers scientific data and is also updated annually. For the latter, written informed consent of each patient is a prerequisite. Data are stored centrally on a server of an independent, public institution (University for Health Sciences, Medical Informatics and Technology: UMIT). The server is situated in a data-processing center with sophisticated security measures including physical control of access. Participating institutions comprise the main hemophilia care centers in Austria. Statistical analysis is carried out on anonymized data only. The project was financed by a public-private partnership with financial resources provided by the Austrian Ministry of Health (BMGFJ) and the pharmaceutical industry. The entire project, which is planned to be long term, will be monitored, evaluated and adjusted by the scientific advisory board accordingly.