Abstract Number: PB1546
Meeting: ISTH 2020 Congress
Theme: Platelet Disorders and von Willebrand Disease » VWF and von Willebrand Factor Disorders - Clinical Conditions
Background: Von Willebrand disease (VWD) is known as the most common inherited bleeding disorder however, well-documented cases of combined VWD with other coagulation defects have been infrequently reported.
Aims: To describe a series of patients with combined VWD and coagulation defects and also evaluate the incidence of combined factor deficiencies in Iran.
Methods: All subjects with VWD panel test requests from June 2018 – May 2019 were included in this prospective monocentric study. For all subjects, demographic data, PT, PTT, VWF: Ag, VWF: RCo, FVIII: C were evaluated by standard methods. Patients with prolonged PT and/or PTT were further investigated for other factor assays and lupus anticoagulant (LA) panel. Also ISTH- BAT, RIPA, and VWF: CB for patients with confirmed VWD results were performed. The patients receiving FVIII or VWF concentrate in 10 days before sampling and pregnant women were excluded.
Results: 1107 subjects were evaluated which results of 70 cases showing VWF: Ag or/and VWF: RCo ≤ 40% and VWD diagnosis was confirmed. After further investigation, we identified seven patients with a combination of coagulation defects and VWD (Table1). All patients except one had significant clinical symptoms (median: 10 and range: 4-21) with at least three hemorrhagic symptoms that might be a result of combined deficiencies. Interestingly in two patients LA was positive. This study providing an estimated incidence of 8.5 % for combined deficiencies in our patient population with the almost same prevalence in men and women.
Conclusions: We can conclude that combined factor deficiencies incidence in our patient population is higher than other records due to consanguineous marriages and it seems to be underdiagnosed. As Co-inheritance of VWD and factor deficiencies can alter the treatment approach for the management of patients, it worth attention.
| Case | Clinical presentation | FVIII:C (IU/mL) | VWF:Ag (IU/mL) | VWF:RCo (IU/mL) | VWF:CB (IU/mL) | BS | coagulation defect(s) |
| 1/5 year/M | Postoperative bleeding | 54 | 34 | 29 | 36 | 21 | LA: Positive |
| 2/4 year/F | Epistaxis, Oral cavity, GI bleeding | 64 | 61 | 35 | 36 | 20 | FVII: 34, LA: Positive |
| 3/5 year/M | Postoperative bleeding | 78 | 42 | 34 | 28 | 10 | FVII: 42 |
| 4 /27 year/F | Epistaxis, Menorrhagia | 75 | 43 | 35 | 55 | 7 | FXI: 2 |
| 5/31 year/F | Mucocutaneous bleeding, Tooth extraction | 43 | 50 | 36 | 53 | 7 | FVII: 11 |
| 6/32 year/M | Mucocutaneous bleeding, Tooth extraction | 70 | 45 | 32 | 41 | 4 | FVII: 52 |
| 7/5 year/M | Epistaxis, Mucocutaneous bleeding | 74 | 40 | 30 | 39 | 2 | FXII:42 |
[Table 1. Clinical presentation and von Willebrand disease screening in patients with combined coagulation defects.]
To cite this abstract in AMA style:
Seidi Zadeh O, Ahmadinejad M, Homayoun S, Mojtabavi M, Mohsenian S. von Willebrand Disease Combined with Other Coagulation Defects: Experience at a Single Reference Coagulation Laboratory in Iran [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/von-willebrand-disease-combined-with-other-coagulation-defects-experience-at-a-single-reference-coagulation-laboratory-in-iran/. Accessed December 5, 2021.« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/von-willebrand-disease-combined-with-other-coagulation-defects-experience-at-a-single-reference-coagulation-laboratory-in-iran/