{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T10:45:35Z","timestamp":1777977935264,"version":"3.51.4"},"reference-count":18,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hamostaseologie"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Here, we report about a preterm female newborn with a prolonged course of severe thrombocytopenia and hematomas. The family history was positive for von Willebrand disease type 2B (VWD 2B). Diagnosis of VWD 2B was identified analyzing von Willebrand factor (VWF) parameters (VWF:antigen, VWF:activity, VWF multimer analyses) and performing light transmission aggregometry (with half concentration of ristocetin). In addition, the diagnosis was confirmed by molecular genetic analysis: identification of a disease-causing missense mutation (Val1316Met) in the VWF gene associated with a severe course of VWD 2B, which had been previously reported. Treatment with a VWF-containing plasma concentrate was initiated. Because the combination of prematurity and very low platelet count is often associated with intracranial bleeding, at the beginning platelet concentrates were transfused. Fortunately, the patient did not develop serious bleeding episodes. Interestingly, the patient had a mutation in the VWF gene, which had been described to be associated with aggravation of thrombocytopenia especially in stressful situations. Therefore, we replaced venous blood withdrawals by capillary blood samplings when possible and, consequently, we observed an increase of the platelet count after this change in management. At the age of 2 months, the patient was discharged after stabilization of the platelet count without any bleeding signs and without a need of long-term medication.<\/jats:p>","DOI":"10.1055\/a-1665-6185","type":"journal-article","created":{"date-parts":[[2021,12,23]],"date-time":"2021-12-23T23:43:15Z","timestamp":1640302995000},"page":"469-474","source":"Crossref","is-referenced-by-count":3,"title":["Type 2B von Willebrand Disease: Early Manifestation as Neonatal Thrombocytopenia"],"prefix":"10.1055","volume":"41","author":[{"given":"David","family":"Kranzh\u00f6fer","sequence":"additional","affiliation":[{"name":"Department for General Pediatrics, Adolescent Medicine and Neonatology, University Medical Center Freiburg, Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Pavlova","sequence":"additional","affiliation":[{"name":"Institute of Experimental Haematology and Transfusion Medicine (IHT), University Hospital Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hendryk","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department for General Pediatrics, Adolescent Medicine and Neonatology, University Medical Center Freiburg, Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Franck","sequence":"additional","affiliation":[{"name":"Department for General Pediatrics, Adolescent Medicine and Neonatology, University Medical Center Freiburg, Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah","family":"Glonnegger","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"B\u00fcchsel","sequence":"additional","affiliation":[{"name":"Clinical Chemistry, University Medical Center Freiburg, Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayami","family":"Yoshimi-N\u00f6llke","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Oldenburg","sequence":"additional","affiliation":[{"name":"Institute of Experimental Haematology and Transfusion Medicine (IHT), University Hospital Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Zieger","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,12,23]]},"reference":[{"issue":"21","key":"ref1","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.1056\/NEJMra1601561","article-title":"Von Willebrand's disease","volume":"375","author":"F WG Leebeek","year":"2016","journal-title":"N Engl J Med"},{"issue":"02","key":"ref2","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1586\/17474086.2014.868771","article-title":"An update on type 2B von Willebrand disease","volume":"7","author":"S Mikhail","year":"2014","journal-title":"Expert Rev Hematol"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1182\/asheducation-2016.1.678","article-title":"Diagnosing von Willebrand disease: genetic analysis","volume":"2016","author":"A Goodeve","year":"2016","journal-title":"Hematology (Am Soc Hematol Educ Program)"},{"issue":"01","key":"ref4","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1182\/bloodadvances.2020003264","article-title":"ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease","volume":"5","author":"N T Connell","year":"2021","journal-title":"Blood Adv"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1182\/bloodadvances.2020003265","article-title":"ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease","volume":"5","author":"P D James","year":"2021","journal-title":"Blood Adv"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.thromres.2017.09.025","article-title":"Von Willebrand disease mutation spectrum and associated mutation mechanisms","volume":"159","author":"A de Jong","year":"2017","journal-title":"Thromb 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Kruse-Jarres","year":"2018","journal-title":"Blood"}],"container-title":["H\u00e4mostaseologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1665-6185.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,23]],"date-time":"2021-12-23T23:52:04Z","timestamp":1640303524000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1665-6185"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12]]},"references-count":18,"journal-issue":{"issue":"06","published-online":{"date-parts":[[2021,12,23]]},"published-print":{"date-parts":[[2021,12]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1665-6185","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0720-9355","2567-5761"],"issn-type":[{"value":"0720-9355","type":"print"},{"value":"2567-5761","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12]]}}}