Epidemiology and Treatment of Patients with Haemophilia in Austria—Update from the Austrian Haemophilia Registry

Rejtő, Judit; Reitter-Pfoertner, Sylvia; Kepa, Sylvia; Feistritzer, Clemens; Grundbichler, Michael; Hörbst, Alexander; Jones, Neil D.; Muntean, W.; Neumeister, Peter; Oberbichler, Stefan; Schuster, Gerhard; Schwarz, Rudolf; Thom, Katharina; Zwiauer, Karl; Streif, Werner; Male, Christoph; Pabinger, Ingrid

doi:10.1055/s-0038-1675354

Cited by 6 publications

(4 citation statements)

References 25 publications

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“…Patients with HA (≥18 years of age) with baseline FVIII:C of 1%‐40% were included in this observational, cross‐sectional study of four Austrian haemophilia centers within the framework of the Austrian haemophilia registry . The lowest FVIII level ever measured in patients’ history served as the basis for the diagnosis and assessment of severity.…”

Section: Methodsmentioning

confidence: 99%

“…Patients with HA (≥18 years of age) with baseline FVIII:C of 1%-40% 12 were included in this observational, cross-sectional study of four Austrian haemophilia centers within the framework of the Austrian haemophilia registry. 13 The lowest FVIII level ever measured in patients' history served as the basis for the diagnosis and assessment of severity. Mild and moderate haemophilia was defined according to the recommendations from the Scientific and Standardization Committee (SSC) of the International Society on Thrombosis and Haemostasis (ISTH).…”

Section: Patients and Me Thodsmentioning

confidence: 99%

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Influence of blood group, von Willebrand factor levels, and age on factor VIII levels in non‐severe haemophilia A

Rejtő

Königsbrügge

Grilz

et al. 2020

Journal of Thrombosis and Haemostasis

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This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. AbstractBackground: Data on the effect of ABO blood group (ABO), von Willebrand factor (VWF) levels, and age on factor VIII (FVIII) in non-severe haemophilia A (HA) is scarce.Objective: To investigate if ABO, VWF levels, and age have an influence on the variability of FVIII levels and consequently on the assessment of severity in non-severe HA. Patients/Methods: Eighty-nine patients with non-severe HA and 82 healthy controls were included. Data on ABO was collected and FVIII clotting activity (FVIII:C) with onestage clotting assay (FVIII:C OSA) and chromogenic substrate assay (FVIII:C CSA), FVIII antigen (FVIII:Ag) and VWF antigen (VWF:Ag) and activity (VWF:Act) were determined. Results: In HA, FVIII:C OSA and CSA and FVIII:Ag were not different between non-O (n = 42, median 15.5, interquartile range 10.4-24.0; 10.0, 6.8-26.0 and 15.2, 10.7-24.9)and O (n = 47, 14.1, 9.0-23.0; 10.0, 5.0-23.0 and 15.2, 9.3-35.5), whereas in healthy controls, non-O individuals had significantly higher FVIII levels. FVIII:C showed no relevant correlation with VWF levels in HA, but we observed strong correlations in healthy controls. Age had only a minor influence in HA, but had a considerable impact on FVIII:C in healthy controls. In multivariable regression analysis ABO, VWF:Ag and age were not associated with FVIII:C in HA, whereas this model explained 61.3% of the FVIII:C variance in healthy controls. Conclusions:We conclude that in non-severe HA ABO and VWF levels do not substantially influence the variability of FVIII levels and age has only minor effects on it, which is important information for diagnostic procedures.

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Section: Methodsmentioning

confidence: 99%

Section: Patients and Me Thodsmentioning

confidence: 99%

Influence of blood group, von Willebrand factor levels, and age on factor VIII levels in non‐severe haemophilia A

Rejtő

Königsbrügge

Grilz

et al. 2020

Journal of Thrombosis and Haemostasis

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“…Hemophilia is an X‑chromosome linked bleeding disorder caused by a deficiency of coagulation factor VIII (in hemophilia A) or factor IX (in hemophilia B) with an estimated frequency of 1:10,000 births [1, 2]. Currently, the Austrian hemophilia registry lists 753 patients [3].…”

Section: Introductionmentioning

confidence: 99%

Establishing an online physical exercise program for people with hemophilia

Wagner

Seuser²,

Krüger

et al. 2019

Wien Klin Wochenschr

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SummaryBackgroundHemophilia is a congenital bleeding disorder with an estimated frequency of 1:10,000 births. Repeated joint bleeding is a hallmark of the disorder and leads to painful hemophilic arthropathy. Regular exercise can help improve joint stability and function, reduce the risk of injury and bleeding and improve physical fitness and quality of life. This method paper describes an online training concept aiming to offer access to appropriate exercise instructions for people with hemophilia who are not able to attend regular training at a hemophilia center.MethodsThe online exercise program is accessible through the homepage of the Department of Physical Medicine, Rehabilitation and Occupational Medicine of the Medical University Vienna as well as through scanning a QR code printed on information material using a smart phone or tablet.ResultsThe program contains exercises to improve mobility, coordination, muscular strength and flexibility. A brief introduction is given by a hematologist, a pediatrician and a physiatrist. An introductory video informs about contraindications and essential precautions, such as medical attendance and sufficient factor therapy to consider before starting the training. Another video gives advice on the exercise composition. The demonstrated exercises are explained by a physician and are available for adults and children. To individualize training recommendations and offer further diagnostic tools and physical treatment options as necessary, the Department of Physical Medicine, Rehabilitation and Occupational Medicine of the Medical University of Vienna will establish consultation hours for people with hemophilia.ConclusionAs hemophilia is an orphan disease, patients are mainly treated in specialized centers. For patients who live far from these centers or have limited access to a training there for other reasons, the physical medicine consultation hour and the implementation of online exercise instructions offer individually adapted exercise information for a regular home-based training to benefit from increased physical fitness and joint stability.

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“…Deficiencies of coagulation factors are rare disorders and, if severe such as severe hemophilia, in most patients diagnosed during childhood. 70 Only patients with a less severe bleeding phenotype, such as mild hemophilia A or B or factor (F) II, V, VII, X, XI, or XIII deficiency, are often diagnosed either because one of the global tests is abnormal or because of a bleeding tendency during adolescence and adulthood.…”

Section: Coagulation Factor Deficienciesmentioning

confidence: 99%

Bleeding Disorder of Unknown Cause: A Diagnosis of Exclusion

Mehic,

Gebhart,

Pabinger

2024

Hamostaseologie

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Patients with an unexplained mild to moderate bleeding tendency are diagnosed with bleeding disorder of unknown cause (BDUC), a classification reached after ruling out other mild to moderate bleeding disorders (MBD) including von Willebrand disease (VWD), platelet function defects (PFDs), coagulation factor deficiencies (CFDs), and non-hemostatic causes for bleeding. This review outlines our diagnostic approach to BDUC, a diagnosis of exclusion, drawing on current guidelines and insights from the Vienna Bleeding Biobank (VIBB). According to guidelines, we diagnose VWD based on VWF antigen and/or activity levels ≤50 IU/dL, with repeated VWF testing if VWF levels are <80 IU/dL. This has been introduced in our clinical routine after our findings of diagnostically relevant fluctuations of VWF levels in a high proportion of MBD patients. PFDs are identified through repeated abnormalities in light transmission aggregometry (LTA), flow cytometric mepacrine fluorescence, and glycoprotein expression analysis. Nevertheless, we experience diagnostic challenges with regard to reproducibility and unspecific alterations of LTA. For factor (F) VIII and FIX deficiency, a cutoff of 50% is utilized to ensure detection of mild hemophilia A or B. We apply established cutoffs for other rare CFD being aware that these do not clearly reflect the causal role of the bleeding tendency. Investigations into very rare bleeding disorders due to hyperfibrinolysis or increase in natural anticoagulants are limited to cases with a notable family history or distinct bleeding phenotypes considering cost-effectiveness. While the pathogenesis of BDUC remains unknown, further explorations of this intriguing area may reveal new mechanisms and therapeutic targets.

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Epidemiology and Treatment of Patients with Haemophilia in Austria—Update from the Austrian Haemophilia Registry

Cited by 6 publications

References 25 publications

Influence of blood group, von Willebrand factor levels, and age on factor VIII levels in non‐severe haemophilia A

Influence of blood group, von Willebrand factor levels, and age on factor VIII levels in non‐severe haemophilia A

Establishing an online physical exercise program for people with hemophilia

Bleeding Disorder of Unknown Cause: A Diagnosis of Exclusion

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