PB0847 - DDAVP-trial has a possible role for auxiliary diagnosis in type 1 and type 2 von Willebrand disease.

Monday, June 26, 2023

18:30 – 19:30 ET

Room: Exhibition

Presenting Author(s)

Kenichi Ogiwara, MD, PhD (he/him/his)

Lecturer
Nara Medical University
Kashihara, Nara, Japan

Co-Author(s)

Naruto Shimonishi, PhD

Assistant professor
The Course of Thrombosis and Hemostasis Molecular Pathology, Nara Medical University
Kashihara, Nara, Japan
Yuto Nakajima, MD PhD

Assistant Professor
Advanced Medical Science of Thrombosis and Hemostasis, Nara Medical University
Kashihara, Nara, Japan
SF

Shoko Furukawa

Assistant professor
Department of Pediatrics, Nara Medical University
Kashihara, Nara, Japan
Masahiro Takeyama, MD, PhD

Associate professor
Department of Pediatrics, Nara Medical University
Kashihara, Nara, Japan
MH

Masaki Hayakawa

Assistant professor
Department of Blood Transfusion Medicine, Nara Medical University
Kashihara, Nara, Japan
MM

Masanori Matsumoto

Professor
Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Nara, Japan
Kashihara, Nara, Japan

Background: In the ASH/ISTH/NHF/WFH-2021-guideline (Blood Adv. 2021) on the diagnosis of von Willebrand disease (VWD), VWD is classified as type 1 or 2 based on the ratio of platelet-dependent VWF activity (such as VWF:RCo and VWF:GPIbM) and VWF:Ag, >0.7 or < 0.7, respectively. DDAVP is clinically available for patients with VWD primarily in type 1 and potentially in some type 2 for hemostatic management. Since the hemostatic efficacy varies depending on the case, DDAVP-trial is recommended before the therapeutic use. Diagnostic use of DDAVP-trial is recommended only for type 1C VWD.

Aims: To confirm the additional diagnostic role of DDAVP-trial from the review of our 6-year-experience.

Methods: We reviewed clinical records of DDAVP-trial performed between Apr-2016 and Mar-2022. VWD subtypes were determined from VWF ratio or other information (multimer analyses, genetic analyses, or family history). DDAVP was infused at 0.3-0.4 μg/kg and blood was collected at indicated times. VWF ratio (VWF:RCo/VWF:Ag) was evaluated.

Results: (See figure) DDAVP-trial was performed in 19 VWD cases [median age 14 y (2-55), male:female 7:12]. Median values (min-max) of VWF:RCo in 0, 0.5, 2, 6, and 24 h after infusion were 21.6% ( < 2.2-101), 97.5% (17.0-230), 67.8% (13.1-320), 59.9% (2.4-165) and 23.2% ( < 2.2-88.7), respectively. Ten cases had a low basal VWF ratio of < 0.7 at 0 h. Of these, 6 cases (VWF ratio 0.24-0.68) who all had previously been diagnosed with type 1 VWD (“type 2M” according to the ASH/ISTH/NHF/WFH-2021-guideline) showed an increased VWF ratio of >0.7 at 0.5-2(6) h after infusion (0.83-1.27), whilst VWF ratio in 4 cases (0.10-0.21) who had been diagnosed as type 2A VWD were still low of < 0.7 (0.23-0.68) during the time course.

Conclusion(s): DDAVP-trial would be useful not only for the prediction of the therapeutic efficacy but also for auxiliary diagnosis in the VWD cases with discrepancies between VWF:RCo and VWF:Ag.