Plasma proteomics in patients with von Willebrand disease and hemophilia A highlights von Willebrand factor as main determinant of response to desmopressin treatment

Background: Desmopressin, 1-deamino-8-D-arginin vasopressin (DDAVP), is a treatment option for people with von Willebrand disease (VWD) and hemophilia A (HA) with a large interindividual variation in response. DDAVP elicits the release of von Willebrand Factor (VWF) from endothelial cells, thereby i...

Full description

Saved in:
Bibliographic Details
Main Authors: Jessica del Castillo Alferez, Eva R. Smit, Alexander B. Meijer, Karin Fijnvandraat, Marieke J.H.A. Kruip, Tirsa T. van Duijl, Maartje van den Biggelaar
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Research and Practice in Thrombosis and Haemostasis
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2475037925000627
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850136589593739264
author Jessica del Castillo Alferez
Eva R. Smit
Alexander B. Meijer
Karin Fijnvandraat
Marieke J.H.A. Kruip
Tirsa T. van Duijl
Maartje van den Biggelaar
author_facet Jessica del Castillo Alferez
Eva R. Smit
Alexander B. Meijer
Karin Fijnvandraat
Marieke J.H.A. Kruip
Tirsa T. van Duijl
Maartje van den Biggelaar
author_sort Jessica del Castillo Alferez
collection DOAJ
description Background: Desmopressin, 1-deamino-8-D-arginin vasopressin (DDAVP), is a treatment option for people with von Willebrand disease (VWD) and hemophilia A (HA) with a large interindividual variation in response. DDAVP elicits the release of von Willebrand Factor (VWF) from endothelial cells, thereby increasing the levels of circulating VWF and coagulation factor (F)VIII. However, we currently lack detailed insight on additional systemic effects of DDAVP administration on plasma protein levels. Objectives: This study aimed to investigate plasma proteomic profiles associated with DDAVP administration. Methods: Longitudinal plasma samples of 13 patients with VWD and 9 people with mild HA up to 24 hours after DDAVP infusion were analyzed using mass spectrometry–based proteomics. Results: Among 408 proteins quantified in plasma, only VWF and VWF propeptide (pp) increased significantly at 1 and 2 hours after DDAVP infusion in people with HA and VWD, respectively. VWF antigen levels were in agreement with mass spectrometry–based VWF intensity levels (ρ = 0.89). A slower clearance was observed for VWF compared with that for VWFpp, accompanied with higher interindividual variation. In 4 people with HA, C-reactive protein levels increased 24 hours after DDAVP infusion, which correlated with serum amyloid A1/A2 levels. Conclusion: This study showed the selective increase of VWF and VWFpp 1 to 2 hours after DDAVP infusion and highlighted the interindividual variance in VWF clearance. Additionally, a delayed acute-phase response in a subgroup of patients suggested the potential role of inflammatory mechanisms contributing to heterogeneity of response.
format Article
id doaj-art-e24f17f490f24d52b1e72911e6fcc104
institution OA Journals
issn 2475-0379
language English
publishDate 2025-03-01
publisher Elsevier
record_format Article
series Research and Practice in Thrombosis and Haemostasis
spelling doaj-art-e24f17f490f24d52b1e72911e6fcc1042025-08-20T02:31:05ZengElsevierResearch and Practice in Thrombosis and Haemostasis2475-03792025-03-019310273810.1016/j.rpth.2025.102738Plasma proteomics in patients with von Willebrand disease and hemophilia A highlights von Willebrand factor as main determinant of response to desmopressin treatmentJessica del Castillo Alferez0Eva R. Smit1Alexander B. Meijer2Karin Fijnvandraat3Marieke J.H.A. Kruip4Tirsa T. van Duijl5Maartje van den Biggelaar6Department of Molecular Hematology, Sanquin Research, Amsterdam, NetherlandsDepartment of Molecular Hematology, Sanquin Research, Amsterdam, NetherlandsDepartment of Molecular Hematology, Sanquin Research, Amsterdam, NetherlandsDepartment of Molecular Hematology, Sanquin Research, Amsterdam, Netherlands; Department of Pediatric Hematology, Emma Children’s Hospital AMC, Amsterdam, NetherlandsDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Molecular Hematology, Sanquin Research, Amsterdam, NetherlandsDepartment of Molecular Hematology, Sanquin Research, Amsterdam, Netherlands; Correspondence Maartje van den Biggelaar, Department of Molecular Hematology, Sanquin Research, Plesmanlaan 125, 1066 CX Amsterdam, Netherlands.Background: Desmopressin, 1-deamino-8-D-arginin vasopressin (DDAVP), is a treatment option for people with von Willebrand disease (VWD) and hemophilia A (HA) with a large interindividual variation in response. DDAVP elicits the release of von Willebrand Factor (VWF) from endothelial cells, thereby increasing the levels of circulating VWF and coagulation factor (F)VIII. However, we currently lack detailed insight on additional systemic effects of DDAVP administration on plasma protein levels. Objectives: This study aimed to investigate plasma proteomic profiles associated with DDAVP administration. Methods: Longitudinal plasma samples of 13 patients with VWD and 9 people with mild HA up to 24 hours after DDAVP infusion were analyzed using mass spectrometry–based proteomics. Results: Among 408 proteins quantified in plasma, only VWF and VWF propeptide (pp) increased significantly at 1 and 2 hours after DDAVP infusion in people with HA and VWD, respectively. VWF antigen levels were in agreement with mass spectrometry–based VWF intensity levels (ρ = 0.89). A slower clearance was observed for VWF compared with that for VWFpp, accompanied with higher interindividual variation. In 4 people with HA, C-reactive protein levels increased 24 hours after DDAVP infusion, which correlated with serum amyloid A1/A2 levels. Conclusion: This study showed the selective increase of VWF and VWFpp 1 to 2 hours after DDAVP infusion and highlighted the interindividual variance in VWF clearance. Additionally, a delayed acute-phase response in a subgroup of patients suggested the potential role of inflammatory mechanisms contributing to heterogeneity of response.http://www.sciencedirect.com/science/article/pii/S2475037925000627DDAVPhemophilia Amass spectrometryproteomicsvon Willebrand Disease
spellingShingle Jessica del Castillo Alferez
Eva R. Smit
Alexander B. Meijer
Karin Fijnvandraat
Marieke J.H.A. Kruip
Tirsa T. van Duijl
Maartje van den Biggelaar
Plasma proteomics in patients with von Willebrand disease and hemophilia A highlights von Willebrand factor as main determinant of response to desmopressin treatment
Research and Practice in Thrombosis and Haemostasis
DDAVP
hemophilia A
mass spectrometry
proteomics
von Willebrand Disease
title Plasma proteomics in patients with von Willebrand disease and hemophilia A highlights von Willebrand factor as main determinant of response to desmopressin treatment
title_full Plasma proteomics in patients with von Willebrand disease and hemophilia A highlights von Willebrand factor as main determinant of response to desmopressin treatment
title_fullStr Plasma proteomics in patients with von Willebrand disease and hemophilia A highlights von Willebrand factor as main determinant of response to desmopressin treatment
title_full_unstemmed Plasma proteomics in patients with von Willebrand disease and hemophilia A highlights von Willebrand factor as main determinant of response to desmopressin treatment
title_short Plasma proteomics in patients with von Willebrand disease and hemophilia A highlights von Willebrand factor as main determinant of response to desmopressin treatment
title_sort plasma proteomics in patients with von willebrand disease and hemophilia a highlights von willebrand factor as main determinant of response to desmopressin treatment
topic DDAVP
hemophilia A
mass spectrometry
proteomics
von Willebrand Disease
url http://www.sciencedirect.com/science/article/pii/S2475037925000627
work_keys_str_mv AT jessicadelcastilloalferez plasmaproteomicsinpatientswithvonwillebranddiseaseandhemophiliaahighlightsvonwillebrandfactorasmaindeterminantofresponsetodesmopressintreatment
AT evarsmit plasmaproteomicsinpatientswithvonwillebranddiseaseandhemophiliaahighlightsvonwillebrandfactorasmaindeterminantofresponsetodesmopressintreatment
AT alexanderbmeijer plasmaproteomicsinpatientswithvonwillebranddiseaseandhemophiliaahighlightsvonwillebrandfactorasmaindeterminantofresponsetodesmopressintreatment
AT karinfijnvandraat plasmaproteomicsinpatientswithvonwillebranddiseaseandhemophiliaahighlightsvonwillebrandfactorasmaindeterminantofresponsetodesmopressintreatment
AT mariekejhakruip plasmaproteomicsinpatientswithvonwillebranddiseaseandhemophiliaahighlightsvonwillebrandfactorasmaindeterminantofresponsetodesmopressintreatment
AT tirsatvanduijl plasmaproteomicsinpatientswithvonwillebranddiseaseandhemophiliaahighlightsvonwillebrandfactorasmaindeterminantofresponsetodesmopressintreatment
AT maartjevandenbiggelaar plasmaproteomicsinpatientswithvonwillebranddiseaseandhemophiliaahighlightsvonwillebrandfactorasmaindeterminantofresponsetodesmopressintreatment