Volume 16, Issue 2 (June 2024 2024)                   Iranian Journal of Blood and Cancer 2024, 16(2): 60-69 | Back to browse issues page

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Azari B, Ahmadinejad M. Type 2N von Willebrand Disease: Overcoming Diagnostic Challenges for Accurate Diagnosis. Iranian Journal of Blood and Cancer 2024; 16 (2) :60-69
URL: http://ijbc.ir/article-1-1486-en.html
Type 2N von Willebrand Disease: Overcoming Diagnostic Challenges for Accurate Diagnosis
Behnam Azari1 , Minoo Ahmadinejad * 2
1- Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine
2- Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine , minooam@gmail.com
Abstract:   (270 Views)
Von Willebrand Factor (vWF) defects can cause von Willebrand Disease (vWD), which is known to be the most prevalent inherited bleeding disorder worldwide. According to the latest classifications, vWD is categorized into three main types. Types 1 and 3 are quantitative defects, while type 2 vWD is caused by qualitative abnormalities in vWF. Furthermore, ISTH classifies type 2 vWD is into four subtypes known as 2A, 2B, 2N, and 2M. Type 2N vWD is an uncommon type of vWD that is inherited in an autosomal recessive pattern. In this type, the binding capacity of vWF to Factor VIII (FVIII) is reduced, resulting in FVIII's shortened half-life in the patient's plasma. Due to the pathophysiology of Type 2N vWD, affected individuals exhibit signs and symptoms similar to those with mild to moderate hemophilia A. These symptoms include mucocutaneous bleeding or bleeding following trauma or surgery. Furthermore, the primary laboratory findings of affected individuals are comparable to those of hemophilia A patients, with Factor VIII levels ranging from 1 to 40 U/dL. It is crucial to differentiate these disorders for optimal treatment and accurate genetic counseling. Physicians may use a combination of clinical assessment, family history, bleeding scores, and laboratory tests to differentiate between the two disorders. Further genetic testing may be necessary to confirm the diagnosis and assess the risk of inheritance. This review outlines methods for diagnosing type 2N vWD and distinguishing it from hemophilia A, based on published papers and current guidelines.
Keywords: von Willebrand Factor, von Willebrand Disease, Hemophilia A.
Full-Text [PDF 661 kb]   (170 Downloads)    
: Review Article | Subject: Adults Hematology & Oncology
Received: 2023/03/20 | Accepted: 2024/04/19 | Published: 2024/06/30
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