Coexixtence Type 1 and 3 Von Willebrand Disease in a Malaysian Child and Her Family

Authors

  • Kimberly Fe Joibi universiti sains malaysia
  • Noor Haslina Mohd Noor universiti sains malaysia
  • Mohd Nazri Hassan universiti sains malaysia
  • Wan Zaidah Abdullah universiti sains malaysia
  • Salfarina Iberahim universiti sains malaysia
  • Rosnah Bahar universiti sains malaysia
  • Shafini Mohd Yusof universiti sains malaysia
  • Marini Ramli
  • Wan Suriana Wan Abdul Rahman universiti sains malaysia
  • Zefarina Zulkafli universiti sains malaysia

Abstract

Von Willebrand disease (WVD) is a common inherited bleeding disorder due to a defect of von Willebrand factor (VWF). VWF is a glycoprotein that crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels < 50 IU/dl) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant antigenic and functional VWF levels). We report a case of an 11-month-old girl diagnosed with Type 3 VWD presented with mucocutaneous bleeding with von Willebrand factor antigen is < 1 IU/dl and positive family history of VWD.  The family study was done and five other family members were also diagnosed with either Type 1 or Type 3 VWD with variable clinical presentations.

Author Biographies

Kimberly Fe Joibi, universiti sains malaysia

haematology department, master student

 

Wan Zaidah Abdullah, universiti sains malaysia

haematology, lecturer

Salfarina Iberahim, universiti sains malaysia

haematology, lecturer

Rosnah Bahar, universiti sains malaysia

lecturer

 

Shafini Mohd Yusof, universiti sains malaysia

lecturer

Marini Ramli

lecturer

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Published

2021-04-05

How to Cite

Fe Joibi, K. ., Mohd Noor, N. H., Hassan, M. N. ., Abdullah, W. Z., Iberahim, S., Bahar, . R. ., Mohd Yusof, S. ., Ramli, M., Wan Abdul Rahman, . W. S. ., & Zulkafli, Z. (2021). Coexixtence Type 1 and 3 Von Willebrand Disease in a Malaysian Child and Her Family. Gazi Medical Journal, 32(2). Retrieved from http://medicaljournal.gazi.edu.tr/index.php/GMJ/article/view/2284

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