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Author(s) -
Corien L. Eckhardt,
Janneke I. Loomans,
Alice S. van Velzen,
Marjolein Peters,
Jan Astermark,
Paul Brons,
Giancarlo Castaman,
Marjon H. Cnossen,
Natasja Dors,
C. EscuriolaEttingshausen,
Karly Hamulyák,
Daniel P. Hart,
C. R. M. Hay,
Saturnino Haya,
Waander L. van Heerde,
Cédric Hermans,
Margaretha Holmström,
Victor J. Imenez-Yuste,
Russell Keenan,
Robert Klamroth,
Britta A.P. Van Laros-Gorkom,
Frank W.G. Leebeek,
Ri Liesner,
Anne Mäkipernaa,
Christoph Male,
Eveline P. MauserBunschoten,
Maria Gabriella Mazzucconi,
Simon McRae,
Karina Meijer,
M. A. Mitchell,
Massimo Morfini,
Marten R. Nijziel,
J. Oldenburg,
Kathelijne Peerlinck,
Pia Petrini,
Helen Platokouki,
Savita Rangarajan,
Sylvia Reitter-Pfoertner,
Elena Santagostino,
Piercarla Schinco,
Frans J. Smiers,
B. Siegmund,
Annarita Tagliaferri,
T. T. Yee,
Pieter Willem Kamphuisen,
Johanna G. van der Bom,
Karin Fijnvandraat
Publication year - 2014
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/hae.12400
Subject(s) - citation , medicine , library science , information retrieval , computer science
and Objectives: Large inter-individual variation in DDAVP response is observed in non-severe hemophilia A patients. Prediction of the response to DDAVP may support its optimal clinical use. The aim is to analyze the predictive value of known determinants of the DDAVP response. Materials and Methods: We included non-severe hemophilia A patients (FVIII:C, 2- 40 IU/dL) from 34 hemophilia treatment centres in Europe, Australia and North America that participate in the RISE project. Data on the following potential determinants were analyzed: age at DDAVP test, blood group, F8 gene mutation, baseline FVIII:C, body mass index (BMI), VWF:Ag and VWF:Act. Main outcome, the response 1 h after DDAVP administration, is classified as complete (CR; FVIII: C > 50 IU/dL) or not complete (FVIII:C ≤ 50 IU/dL). Data were first analyzed by binary logistic regression analysis. Next, the predictive value of the combined determinants for a CR was used to construct a receiver operator curve (ROC). The area under the ROC curve (AUC) reflects the predictive value of the combined determinants as it represents the proportion of patients with correctly predicted CRs. AUC >80% is considered good, 70-80% fair, and 60-70% poor. Results: We included 850 non-severe hemophilia A patients; median age at time of DDAVP administration was 20 years (IQR 8-40), median baseline FVIII:C, VWF:Ag and VWF:Act levels were 17 IU/dL (IQR 10-25), 95 IU/dL (IQR 72-118), and 86 IU/ dL (IQR 67-111), respectively. A CR was present in 64% of the patients. In the total population, the predictive value for CR was 74% (fair). F8 genotype was known in 508 patients (60%), displaying 136 different missense mutations. Most prevalent were Asn618Ser (n = 105, CR in 84%), Arg593Cys (n = 91, CR in 62%), and Arg2150His (n = 17, CR in 59%). The predictive value of the combined determinants for a CR in the Arg593Cys group was 76% (fair), but was poor in the Asn618Ser group and the Arg2150His group (AUC = 62%, and 67%, respectively). Conclusions: The predictive value of the known determinants of DDAVP response is fair in the complete study group. However, it varies among different mutation groups between fair and poor. This suggests yet unidentified determinants of the response to DDAVP