{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T20:50:09Z","timestamp":1751403009135,"version":"3.37.3"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,9,19]],"date-time":"2018-09-19T00:00:00Z","timestamp":1537315200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"MURST"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Type 2M is a very heterogeneous form of von Willebrand disease (VWD) associated with impaired platelet and von Willebrand factor (VWF) interactions not due to a lack of large VWF multimers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To investigate type 2M heterogeneity and to establish the most appropriate diagnostic flowchart.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Hemostatic and genetic VWF analyses were performed in 14 type 2M VWD patients carrying the p.G1324S, p.R1374H, p.R1374C, p.A1344_A1350del, or p.F1293L mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>PFA\u2010100 was always significantly prolonged, and ristocetin\u2010induced platelet aggregation (RIPA) and VWF ristocetin cofactor (VWF:RCo) greatly reduced or absent. Plasma VWF antigen (VWF:Ag) was reduced except in the p.G1324S patient, while platelet VWF:Ag was normal or near normal except in the p.R1374C patients. The ratio of collagen binding (VWF:CB) to VWF:Ag was normal or near normal except in patients carrying the p.R1374H and p.A1344_A1350del mutations, whose large VWF multimers were slightly reduced. Multimer patterns were normal or lacking in large oligomers, or with larger than normal VWF components.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Only PFA100, RIPA and VWF:RCo were always abnormal. We thus propose a minimal diagnostic test battery: RIPA (demonstrating the defective VWF\u2010platelet interaction), VWF:Ag (exploring VWF synthesis), and VWF:CB and its ratio (to explore multimer patterns). Other tests would only serve for confirmation, if necessary.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ejh.13159","type":"journal-article","created":{"date-parts":[[2018,8,7]],"date-time":"2018-08-07T11:38:09Z","timestamp":1533641889000},"page":"684-690","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The elusive and heterogeneous pattern of type 2M von Willebrand disease: A diagnostic challenge"],"prefix":"10.1111","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6556-5967","authenticated-orcid":false,"given":"Alessandra","family":"Casonato","sequence":"first","affiliation":[{"name":"Department of Medicine, First Chair of Internal Medicine University of Padua Medical School Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Galletta","sequence":"additional","affiliation":[{"name":"Department of Medicine, First Chair of Internal Medicine University of Padua Medical School Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viviana","family":"Daidone","sequence":"additional","affiliation":[{"name":"Department of Medicine, First Chair of Internal Medicine University of Padua Medical School Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,9,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.67.1.395"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V58.2.387.387"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/S0021-9258(17)42483-5","article-title":"Von Willebrand factor. 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