Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis

被引：3

作者：

Moreno-Castano, A. B. ^{[1
,2
]}

Ramos, A. ^{[1
,2
]}

Pino, M. ^{[1
,2
]}

Parra, R. ^{[3
]}

Altisent, C. ^{[4
]}

Vidal, F. ^{[3
,4
,5
]}

Corrales, I ^{[3
,4
]}

Borras, N. ^{[3
,4
]}

Torramade-Moix, S. ^{[1
,2
]}

Palomo, M. ^{[1
,2
,6
]}

Escolar, G. ^{[1
,2
]}

Diaz-Ricart, M. ^{[1
,2
]}

机构：

[1] Univ Barcelona, IDIBAPS, Hosp Clin, CDB,Dept Pathol,Hematopathol,Hemostasis & Eritrop, Barcelona, Spain

[2] Barcelona Endothelium Team, Barcelona, Spain

[3] Banc Sang & Teixits, Congenital Coagulopathies Dept, Barcelona, Spain

[4] Univ Autonoma Barcelona VHIR UAB, Vall dHebron Res Inst, Med Transfus, Barcelona, Spain

[5] CIBER Enfermedades Cardiovasc CIBERCV, Madrid, Spain

[6] Josep Carreras Leukaemia Res Inst IJC, Barcelona, Spain

来源：

PLATELETS | 2021年 / 32卷 / 05期

关键词：

2A IID; 2M; von Willebrand disease; ANTIBODY-BASED ELISA; MUTATIONS;

D O I：

10.1080/09537104.2020.1784403

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Identification of qualitative variants of von Willebrand disease (VWD) can be a diagnostic challenge because of discrepant results obtained in the multiple laboratory tests available for its appropriate classification. We report two cases of infrequent inherited variants of VWD with unclear preliminary results with the test panel available at the time of first consultation and that were finally diagnosed as a VWD type 2A/IID with a c.8318 G > C, p.Cys2773Ser mutation and a VWD type 2M with c.4225 T > G, p.Val1409Phe mutation, respectively. The description of these two cases highlights that despite the limited diagnostic panel for the evaluation of von Willebrand Factor (VWF) functionality, the multimeric analysis and genetic family studies were fundamental tools to achieve the final diagnosis.

引用

页码：697 / 700

页数：4