Novel gene mutation causing type 3 Von Willebrand disease: a case report and review of literature

Authors

  • Shree H. Koneru Department of Pediatric Hematology Oncology and BMT, Sri Ramachandra Medical College and Research Institute, Sri Ramachandra Institute of Higher Education and Research, Chennai, India http://orcid.org/0000-0002-8437-6536
  • Shradha S. Raman Department of Pediatrics, Sri Ramachandra Medical College and Research Institute, Sri Ramachandra Institute of Higher Education and Research, Chennai, India
  • Swathi P. Murugan Department of Pediatrics, Sri Ramachandra Medical College and Research Institute, Sri Ramachandra Institute of Higher Education and Research, Chennai, India
  • Febe R. Suman Department of Pathology and Laboratory Medicine, Sri Ramachandra Medical College and Research Institute, Sri Ramachandra Institute of Higher Education and Research, Chennai, India
  • Dhaarani Jayaraman Department of Pediatric Hematology Oncology and BMT, Sri Ramachandra Medical College and Research Institute, Sri Ramachandra Institute of Higher Education and Research, Chennai, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20223430

Keywords:

Hemophilia, Factor-viii, VWF, VWD, Hemarthrosis

Abstract

Von Willebrand disease (VWD) Type 3 is an uncommon bleeding disorder, resulting from the near absence of Von Willebrand factor (VWF) and extremely low factor-VIII levels. It is a close differential diagnosis of hemophilia. A wide heterogeneity of VWD mutations are reported in the literature. We report a 16-year-old girl with hemarthrosis, finally diagnosed with Type 3 VWD. Clinical exome sequencing confirmed the diagnosis, revealing a homozygous mutation c.4387G>T (p. Glu1463Ter) in exon 28 of the VWF gene, a unique mutation not yet reported in the literature.

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Author Biographies

Shree H. Koneru, Department of Pediatric Hematology Oncology and BMT, Sri Ramachandra Medical College and Research Institute, Sri Ramachandra Institute of Higher Education and Research, Chennai, India

Fellow in Pediatric Hematology and Oncology

Department of Pediatric Hematology Oncology

Sri Ramchandra Medical College and Research Institute

Sri Ramachandra Institute of Higher Education and Research

 

Shradha S. Raman, Department of Pediatrics, Sri Ramachandra Medical College and Research Institute, Sri Ramachandra Institute of Higher Education and Research, Chennai, India

Undergraduate

Department of Pediatrics

Sri Ramchandra Medical College and Research Institute

Sri Ramachandra Institute of Higher Education and Research

Swathi P. Murugan, Department of Pediatrics, Sri Ramachandra Medical College and Research Institute, Sri Ramachandra Institute of Higher Education and Research, Chennai, India

Post Graduate

Department of Pediatrics

Sri Ramchandra Medical College and Research Institute

Sri Ramachandra Institute of Higher Education and Research

Febe R. Suman, Department of Pathology and Laboratory Medicine, Sri Ramachandra Medical College and Research Institute, Sri Ramachandra Institute of Higher Education and Research, Chennai, India

Professor

Department of Pathology and Laboratory Medicine,

Sri Ramchandra Medical College and Research Institute

Sri Ramachandra Institute of Higher Education and Research, Chennai

Dhaarani Jayaraman, Department of Pediatric Hematology Oncology and BMT, Sri Ramachandra Medical College and Research Institute, Sri Ramachandra Institute of Higher Education and Research, Chennai, India

Assitant Professor

Department of Pediatric Hematology Oncology

Sri Ramchandra Medical College and Research Institute

Sri Ramachandra Institute of Higher Education and Research

References

Michael Soucie J, Miller CH, Byams VR, Payne AB, Abe K, Sidonio RF Jr, Kouides PA: Occurrence rates of von Willebrand disease among people receiving care in specialized treatment centres in the United States. Haemophilia. 2021, 27:445-53.

Montgomery RR, Gill JC: Interactions between von Willebrand factor and factor VIII: where did they first meet. J Pediatr Hematol Oncol. 2021;22:269-275.

Sadler JE, Budde U, Eikenboom JC. Update on the p physiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost. 2006;4:2103-14.

Eikenboom JC. Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology. Best Pract Res Clin Haematol. 2001;14:365-79.

Mandava M, Bergmann S, Lazarchick J. A Novel Case of Compound Heterozygous Type 3 Von Willebrand Disease. Ann Clin Lab Sci. 2019;49:393-4.

Bowman M, Hopman WM, Rapson D, Lillicrap D, James P. The prevalence of symptomatic von Willebrand disease in primary care practice. J Thromb Haemost. 2010;8:213-6.

Trasi S, Shetty S, Ghosh K, Mohanty D: Prevalence and spectrum of von Willebrand disease from western India. Indian J Med Res. 2005;121:653-8.

Tosetto A, Badiee Z, Baghaipour MR. Bleeding symptoms in patients diagnosed as type 3 von Willebrand disease: Results from 3WINTERS-IPS, an international and collaborative cross-sectional study. J Thromb Haemost. 2020;18:2145-54.

Kasatkar P, Shetty S, Ghosh K. Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients. PLoS One. 2014;27:92575.

James PD, Lillicrap D, Mannucci PM. Alloantibodies in von Willebrand disease. Blood. 2013;122:636-40.

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Published

2022-12-27

How to Cite

Koneru, S. H., Raman, S. S., Murugan, S. P., Suman, F. R., & Jayaraman, D. (2022). Novel gene mutation causing type 3 Von Willebrand disease: a case report and review of literature. International Journal of Contemporary Pediatrics, 10(1), 100–102. https://doi.org/10.18203/2349-3291.ijcp20223430

Issue

Vol. 10 No. 1 (2023): January 2023

Section

Case Reports
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