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Despite the increased worldwide awareness, over the last decade, of the platelet-type von Willebrand Disease (PT-VWD), many uncertainties remain around this rare platelet bleeding disorder. This report aims to correctly identify and study the phenotype of new patients and highlights the diagnostic and therapeutic challenges this disease remains to pose. We describe four PT-VWD cases confirmed by genetic analysis in which either the diagnosis and/or the treatment posed challenge. We provide the details of the clinical presentation, laboratory analysis, and the treatment and the responses in each case. We show that in addition to type 2B VWD, PT-VWD can be misdiagnosed as idiopathic thrombocytopenic purpura, neonatal alloimmune thrombocytopenia, and unexplained gestational thrombocytopenia. The disease can be diagnosed as early as 1 year of age and with phenotypically normal parents. Bleeding in some patients can be managed successfully using Humate P and DDAVP combined with tranexamic acid with no significant thrombocytopenia. We provide for the first time an evidence of an efficient response to rFVIIa in PT-VWD. Anaphylactic reaction to VWF preparations may be related to PT-VWD and the development of HLA antibodies is not uncommon. Progressive thrombocytopenia with normal VWF levels can be seen with PT-VWD and the platelet count was normalized at 2.5 weeks postpartum in one case. We conclude that these studies represent a record of clinical observations/interventions that help improve diagnoses/management of PT-VWD, highlight the variations in age and clinical presentations, laboratory diagnostic approaches, the importance of genetic testing for accurate diagnosis and consideration of therapeutic alternatives.

A personal history of excessive mucocutaneous bleeding is a key component in the diagnosis of a number of mild bleeding disorders, including von Willebrand disease (VWD), platelet function disorders (PFD), and coagulation factor deficiencies. However, the evaluation of hemorrhagic symptoms is a well-recognized challenge for both patients and physicians, because the reporting and interpretation of bleeding symptoms is subjective. As a result, bleeding assessment tools (BATs) have been developed and studied in a variety of clinical settings. This work has been pioneered by a group of Italian researchers, and the resultant 'Vicenza Bleeding Questionnaire' stands as the original BAT. In this review, we will discuss the modifications of the Vicenza Bleeding Questionnaire that have taken place over the years, as well as the validation studies that have been published. Other BATs that have been developed and published will be reviewed, as will the special situations of assessing pediatric bleeding as well as menorrhagia. Lastly, the clinical utility of BATs will be discussed including remaining challenges and future directions for the field., (© 2012 International Society on Thrombosis and Haemostasis.)

Mild mucocutaneous bleeding symptoms are common in the general population. Differentiating normal from pathological bleeding complaints begins with a detailed bleeding history that assesses: the pattern (primary versus secondary hemostasis), the severity, and the onset (congenital versus acquired) of bleeding. Bleeding assessment tools have been developed to aid in determining whether bleeding symptoms are outside of the normal range. Although the clinical pattern of bleeding and family history directs laboratory investigations, von Willebrand disease, the most common and best characterized of the primary hemostatic disorders, is often the first diagnosis to be considered. Clinical management focuses on the particular symptoms experienced by the patient. Medical interventions include replacement of the factor that is deficient or defective, or indirect treatments, such as antifibrinolytics (tranexamic acid), desmopression, and hormone-based therapy (e.g., oral contraceptive pill for menorrhagia)., (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)

The evaluation of a patient presenting with bleeding symptoms is challenging. Bleeding symptoms are frequently reported by a normal population, and overlap significantly with bleeding disorders, such as type 1 Von Willebrand disease. The history is subjective; bleeding assessment tools significantly facilitate an accurate quantification of bleeding severity. The differential diagnosis is broad, ranging from defects in primary hemostasis, coagulation deficiencies, to connective tissue disorders. Finally, despite significant clinical evidence of abnormal bleeding, many patients will have not an identifiable disorder. Clinical management of bleeding disorders is highly individualized and focuses on the particular symptoms experienced by the patient., (Copyright © 2012 Elsevier Inc. All rights reserved.)