von Willebrand Disease: Differential Diagnosis and Diagnostic Approach to Specific Subtypes

2016 ◽  
pp. 285-293 ◽  
Author(s):  
Margaret V. Ragni
Keyword(s):  
Differential Diagnosis ◽  
Von Willebrand Disease ◽  
Diagnostic Approach ◽  
Von Willebrand

Heavy Menstrual Bleeding in the Adolescent

2019 ◽  
Author(s):  
Kimberly Huhmann ◽  
Andrea Zuckerman
Keyword(s):  
Differential Diagnosis ◽  
Aminocaproic Acid ◽  
Bleeding Disorder ◽  
Von Willebrand Disease ◽  
Heavy Menstrual Bleeding ◽  
Menstrual Bleeding ◽  
Oral Contraceptive Pills ◽  
Sexually Transmitted ◽  
Contraceptive Pills ◽  
Von Willebrand

Heavy menstrual bleeding is a common presenting problem in the adolescent population. The average age of menarche is between 12 and 13 years. The most common reason for heavy menstrual bleeding soon after menarche is from an immature hypothalamic ovarian access, which spontaneously resolves once cycles become ovulatory. However, the broad differential diagnosis for heavy menses in adolescents includes coagulopathy, thyroid disease, sexually transmitted infections, specifically chlamydia, and chronic medical conditions. Von Willebrand disease is the most common bleeding disorder that can present with heavy menstrual bleeding at menarche or shortly after. A thorough history and physical exam with occasional labs needs to be completed and can assist in narrowing the differential diagnosis. Treatment of heavy menstrual bleeding consists of hormonal and nonhormonal options: combination oral contraceptive pills, patches, or rings taken continuously or cyclically; progesterone-only pills; progesterone implants; progesterone intrauterine devices; cyclic tranexamic acid; cyclic aminocaproic acid; and GnRH agonists with add-back therapy. This review contains 3 tables, and 28 references. Key Words: adolescent menses, anovulation, bleeding disorder, heavy menstrual bleeding, immature hypothalamic ovarian axis, menarche, treatment of heavy menses, Von Willebrand disease

von Willebrand disease type 2B must be always considered in the differential diagnosis of genetic thrombocytopenias with giant platelets

Platelets ◽  
2006 ◽  
Vol 17 (3) ◽  
pp. 149-152 ◽  
Author(s):  
Giuseppe Loffredo ◽  
Luciano Baronciani ◽  
Patrizia Noris ◽  
Francesco Menna ◽  
Augusto B. Federici ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Disease Type ◽  
Von Willebrand Disease ◽  
Giant Platelets ◽  
Von Willebrand

Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease

Platelets ◽  
2017 ◽  
Vol 28 (8) ◽  
pp. 825-828 ◽  
Author(s):  
Mathilde Penel-Page ◽  
Sandrine Meunier ◽  
Mathilde Fretigny ◽  
Sandra Le Quellec ◽  
Pierre Boisseau ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Von Willebrand Disease ◽  
Alloimmune Thrombocytopenia ◽  
Von Willebrand

scholarly journals Diagnostic approach to von Willebrand disease

Blood ◽  
2015 ◽  
Vol 125 (13) ◽  
pp. 2029-2037 ◽  
Author(s):  
Christopher Ng ◽  
David G. Motto ◽  
Jorge Di Paola
Keyword(s):  
Von Willebrand Disease ◽  
Diagnostic Approach ◽  
Von Willebrand

scholarly journals Evaluation of the Utility of von Willebrand Factor Propeptide in the Differential Diagnosis of von Willebrand Disease and Acquired von Willebrand Syndrome

2018 ◽  
Vol 45 (01) ◽  
pp. 036-042 ◽  
Author(s):  
Francesca Stufano ◽  
Marco Boscarino ◽  
Paolo Bucciarelli ◽  
Luciano Baronciani ◽  
Alberto Maino ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Von Willebrand Factor ◽  
Characteristic Curve ◽  
Von Willebrand Disease ◽  
Cross Sectional ◽  
Acquired Von Willebrand Syndrome ◽  
Von Willebrand ◽  
Willebrand Factor ◽  
Von Willebrand Factor Propeptide

AbstractAn increased von Willebrand factor propeptide (VWFpp) to VWF antigen (VWF:Ag) ratio (VWFpp/VWF:Ag) indicates an enhanced clearance of VWF. This finding has been described in von Willebrand disease (VWD) and in acquired von Willebrand syndrome (AVWS). A distinction between these two diseases, one congenital and the other acquired, is primarily based on family and personal history of bleeding. However, if this information is scanty, the diagnosis might be challenging due to the lack of an effective diagnostic biomarker. In this cross-sectional study, we assessed the ability of VWFpp/VWF:Ag for the differential diagnosis between VWD and AVWS. VWFpp/VWF:Ag was measured in a group of 153 patients (125 with VWD and 28 with AVWS). Most patients with AVWS and VWD showed an increased VWFpp/VWF:Ag, although to variable degrees. A marked increase of VWFpp/VWF:Ag was mainly associated with the diagnosis of AVWS and VWD type 1 Vicenza. A receiver operating characteristic curve was used to identify the optimal cutoff of VWFpp/VWF:Ag for discrimination of patients with a modestly increased (most VWD cases) versus those with a markedly increased clearance (AVWS and VWD type 1 Vicenza), and this cutoff was identified at the value of 3.9 (sensitivity: 0.70, specificity: 0.97). The ROC curve sorting from a logistic model containing VWFpp/VWF:Ag, age, and sex had an area under the curve (AUC) of 0.88 (95% confidence interval: 0.80–0.95). A subsequent molecular evaluation discriminated VWD type 1 Vicenza from AVWS. In conclusion, VWFpp/VWF:Ag appears helpful to discriminate patients with a markedly increase VWF clearance (AVWS or VWD type 1 Vicenza) from those with a modestly increased clearance (most VWD patients).

Differential diagnosis between type 2A and 2B von Willebrand disease in a child with a previously undescribedde novomutation

Haemophilia ◽  
2018 ◽  
Vol 24 (4) ◽  
pp. e263-e266
Author(s):  
M. T. Pagliari ◽  
L. Baronciani ◽  
F. Stufano ◽  
P. Colpani ◽  
S. M. Siboni ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Von Willebrand Disease ◽  
Von Willebrand

Morbidity and mortality of patients with haemophilia in Germany 2007/2008

2009 ◽  
Vol 29 (S 01) ◽  
pp. S7-S12
Author(s):  
M. Spannagl ◽  
W. Schramm ◽  
H. Krebs ◽  
Keyword(s):  
Causes Of Death ◽  
Severity Of Illness ◽  
Von Willebrand Disease ◽  
Morbidity And Mortality ◽  
Haemophilia A ◽  
Hiv Status ◽  
Von Willebrand ◽  
Existing Data

SummarySince 1978 an annual multicentric survey regarding the epidemiology of patients suffering of haemophilia is performed with support of haemophilia treating centres of any size. Again the actual compilation is resting upon a broad database returning to over 30 years of inquiry well representing both the actual and retrospective status of mortality. Prompted was exclusively information about patients with haemophilia A, B and von Willebrand disease. In particular anonymous data concerning the last 12 months about number of treated patients, type and severity of illness, HIV-status and detailed information about causes of death was inquired. This data was merged with existing data and analyzed statistically. In the 2007/2008 survey, a total

Platelet Activation and Aggregation Induced by Recombinant von Willebrand Factors Reproducing Four Type 2B von Willebrand Disease Missense Mutations

1998 ◽  
Vol 79 (01) ◽  
pp. 211-216 ◽  
Author(s):  
Lysiane Hilbert ◽  
Claudine Mazurier ◽  
Christophe de Romeuf
Keyword(s):  
Platelet Aggregation ◽  
Platelet Activation ◽  
Von Willebrand Disease ◽  
Platelet Glycoprotein ◽  
Missense Mutations ◽  
Inhibit Platelet Aggregation ◽  
Wild Type ◽  
A1 Domain ◽  
Von Willebrand ◽  
Willebrand Factor

SummaryType 2B of von Willebrand disease (vWD) refers to qualitative variants with increased affinity of von Willebrand factor (vWF) for platelet glycoprotein Ib (GPIb). All the mutations responsible for type 2B vWD have been located in the A1 domain of vWF. In this study, various recombinant von Willebrand factors (rvWF) reproducing four type 2B vWD missense mutations were compared to wild-type rvWF (WT-rvWF) for their spontaneous binding to platelets and their capacity to induce platelet activation and aggregation. Our data show that the multimeric pattern of each mutated rvWF is similar to that of WT-rvWF but the extent of spontaneous binding and the capacity to induce platelet activation and aggregation are more important for the R543Q and V553M mutations than for the L697V and A698V mutations. Both the binding of mutated rvWFs to platelets and platelet aggregation induced by type 2B rvWFs are inhibited by monoclonal anti-GPIb and anti-vWF antibodies, inhibitors of vWF binding to platelets in the presence of ristocetin, as well as by aurin tricarboxylic acid. On the other hand, EDTA and a monoclonal antibody directed against GPIIb/IIIa only inhibit platelet aggregation. Furthermore, the incubation of type 2B rvWFs with platelets, under stirring conditions, results in the decrease in high molecular weight vWF multimers in solution, the extent of which appears correlated with that of plasma vWF from type 2B vWD patients harboring the corresponding missense mutation. This study supports that the binding of different mutated type 2B vWFs onto platelet GPIb induces various degrees of platelet activation and aggregation and thus suggests that the phenotypic heterogeneity of type 2B vWD may be related to the nature and/or location of the causative point mutation.

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