Diagnosis and Management of von Willebrand Disease in China

State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, Peoples Republic of China.
Seminars in Thrombosis and Hemostasis (Impact Factor: 3.88). 07/2011; 37(5):607-14. DOI: 10.1055/s-0031-1281050
Source: PubMed


In China, the care of patients with a bleeding disorder is not organized into designated centers with a national protocol. However, currently developed organizations of hematologists and hemophilia patients are beginning to ensure better diagnosis, treatment, and care of affected patients. The diagnosis of von Willebrand disease (VWD) in China is still at an early stage. Misdiagnosis of the disease is difficult to avoid, and there is a need to improve our current diagnostic strategy. Our data show that assessment of von Willebrand factor (VWF) antigen levels is pivotal in ranking VWD clinical severity for replacement therapy. Treatment choices for VWD in China are currently limited to replacement therapy and antifibrinolytic drugs. Most VWD patients in China do not need replacement therapy. New phenotypic assays and genetic testing of VWF for research purposes have developed with results published in the Chinese medical literature in the last few years, and many are practical and feasible for diagnostic application. However, more efforts are needed for their widespread use for precise VWD diagnosis in China.

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Available from: Changgeng Ruan, Jun 19, 2014
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    ABSTRACT: von Willebrand disease (VWD) is the most common inherited bleeding disorder and arises from deficiencies and/or defects in the plasma protein von Willebrand factor (VWF). The current report overviews the diagnosis and management of VWD as reflected by differential processes applied within centers around the world. The prevalence of VWD, as well as the frequency of different VWD types, is also reported. VWD prevalence data varies according to methodology used, with epidemiological/population screening estimates approximating 1% of the population (or 10,000 cases per million population), several orders of magnitude higher than estimates from bleeding disorders registry data or regional/center analysis (which instead range from <1 to ~450 cases per million population). Frequency of different VWD types also varies according to source and analysis, with type 1 VWD identified as the clear dominant type in most developed countries (ranging from 40% to 90% of all VWD cases), whereas type 3 VWD predominates in developing countries such as India and Iran. The frequency of qualitative (i.e., type 2) VWD also varies considerably among different reports, ranging from 3% to >50% of all VWD cases, as does the frequency of specific qualitative VWD types (i.e., 2A, 2B, 2M, and 2N). Although type 2A VWD is considered the most common form of type 2 VWD, in some reports workers consider type 2M VWD to be as, or more, common. Although not considered to be a "true" VWD, given its platelet origin, platelet-type VWD is only rarely identified. Finally, management of VWD also differs according to geographic region. Most developed countries use standard therapy, employing desmopressin (DDAVP) wherever possible, factor concentrate in other situations, and antifibrinolytic therapy as required. In contrast, the relative high cost and unavailability of factor concentrates in developing countries, and sometimes the unavailability of DDAVP, requires different management strategies to be applied.
    Seminars in Thrombosis and Hemostasis 07/2011; 37(5):440-55. DOI:10.1055/s-0031-1281028 · 3.88 Impact Factor
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    ABSTRACT: INTRODUCTION: von Willebrand factor (VWF)-related disorders are generally distinguished as either acquired (von Willebrand Syndrome; VWS) or congenital (von Willebrand Disease; VWD). VWD is the most common inherited bleeding disorder and is due to deficiencies and/or defects in VWF. VWS arises from a large variety of causes. AREAS COVERED: The current report briefly overviews the diagnosis of VWD and VWS, but primarily covers the management of these disorders, as reflected by differential processes applied within different centers worldwide, also focusing on emerging trends in biological therapies. Most developed countries currently use standard therapy to manage bleeding, employing desmopressin wherever possible, factor concentrate in other situations and additional (e.g., antifibrinolytic) therapy when required. With regards to factor concentrates, there are differences in content between those available in relation to levels and composition of VWF and factor VIII, and only selective concentrates are available in different localities. EXPERT OPINION: All these aspects reflect important but sometimes overlooked issues when using replacement therapy, or attempting to follow expert guidelines. Recombinant VWF has been developed and is undergoing clinical trials, and this promising therapy may change the VWD management landscape in the near future.
    Expert opinion on biological therapy 03/2012; 12(5):551-64. DOI:10.1517/14712598.2012.667398 · 3.74 Impact Factor
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    ABSTRACT: Bleeding disorder panels often include the prothrombin time (PT)/international normalized ratio (INR), activated partial thromboplastin time (APTT), fibrinogen level, and thrombin time (TT). We explored the detection of abnormalities from bleeding disorders by these tests among subjects referred for bleeding disorder assessments, using data from a bleeding disorder study to determine sensitivities and specificities. Among subjects referred to hematologists for bleeding disorder assessment, coagulation defects were uncommon and the APTT and TT detected many nonsignificant abnormalities. While all test and panel specificities were acceptable (88 to 100%), coagulation screening tests were less sensitive to clinically significant abnormalities (1.0 to 2.1%) than von Willebrand disease (VWD) screens (6.7%), and light transmission platelet aggregometry (LTA) (26%). Accordingly, panels comprising PT/INR, APTT, fibrinogen, and TT had lower sensitivity to bleeding disorders (3.7%) than panels expanded to include VWD screens (8.5%), or VWD screens and LTA (30%). These findings have important implications for bleeding disorder diagnosis.
    Seminars in Thrombosis and Hemostasis 09/2012; 38(7):742-52. DOI:10.1055/s-0032-1326780 · 3.88 Impact Factor
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