Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States

Author:

Flood Veronica H.123,Christopherson Pamela A.3,Gill Joan Cox123,Friedman Kenneth D.34,Haberichter Sandra L.123,Bellissimo Daniel B.3,Udani Rupa A.3,Dasgupta Mahua5,Hoffmann Raymond G.5,Ragni Margaret V.6,Shapiro Amy D.7,Lusher Jeanne M.8,Lentz Steven R.9,Abshire Thomas C.123410,Leissinger Cindy11,Hoots W. Keith12,Manco-Johnson Marilyn J.13,Gruppo Ralph A.14,Boggio Lisa N.15,Montgomery Kate T.16,Goodeve Anne C.17,James Paula D.18,Lillicrap David18,Peake Ian R.17,Montgomery Robert R.123

Affiliation:

1. Division of Hematology/Oncology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI;

2. Children’s Research Institute, Children’s Hospital of Wisconsin, Milwaukee, WI;

3. Blood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI;

4. Division of Hematology/Oncology, Department of Medicine, and

5. Division of Quantitative Health Sciences, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI;

6. Division of Hematology/Oncology, Department of Medicine, University of Pittsburgh, Pittsburgh, PA;

7. Indiana Hemophilia and Thrombosis Center, Indianapolis, IN;

8. Division of Hematology, Children’s Hospital of Michigan, Detroit, MI;

9. Department of Internal Medicine, University of Iowa, Iowa City, IA;

10. Department of Pediatrics, Emory University School of Medicine, Atlanta, GA;

11. Departments of Medicine, Pediatrics, and Pathology, Tulane University School of Medicine, New Orleans, LA;

12. Department of Pediatrics, University of Texas Health Science Center, Houston, TX;

13. Mountain States Regional Hemophilia and Thrombosis Center, Aurora, CO;

14. Division of Hematology/Oncology, Cincinnati Children’s Hospital, Cincinnati, OH;

15. Rush Hemophilia and Thrombophilia Center, Rush University Medical Center, Chicago, IL;

16. Partners HealthCare Personalized Medicine, Cambridge, MA;

17. Haemostasis Research Group, Department of Cardiovascular Science, University of Sheffield, Sheffield, United Kingdom; and

18. Departments of Medicine, and Pathology and Molecular Medicine, Queen’s University, Kingston, ON, Canada

Abstract

Key Points Type 1 VWD in the United States is highly variable, including patients with very low VWF levels as well as those with mild or minimal VWF deficiency. The frequency of sequence variants in the VWF gene increases with decreasing VWF level, but BS does not vary by VWF level.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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