CLINICAL AND HEMORRHAGIC PROFILES OF PATIENTS WITH VON WILLEBRAND DISEASE

Abstract

The von Willebrand factor (VWF) gene is located on Chr12p12, and deleterious mutations in this gene cause von Willebrand disease (VWD). VWD is an inherited coagulopathy that affect FvW both quantitatively and qualitatively. There are three main types of the disease (types 1, 2, and 3) and a total of 6 subgroups. In type 1, patients have a lower concentration of circulating FVW. In type 2, a lower activity of circulating FVW is observed, and in type 3, there is virtually no circulating FVW. VWD is the most common and least diagnosed coagulation disorder. The aim of this study was to analyze the clinical and hemorrhagic profiles of patients with VWD treated at Fundação Hemominas. Patients were invited to participate when they visited the treatment center. The 30 patients answered two questionnaires: 1) Bleeding Assessment Score - ISTH (BAT-ISTH); and 2) Arthralgia Assessment. Among female patients (n = 17) the mean (MED) age was 38.5 years (IQR 34.5-43.8) and the MED bleeding score was 13 (IQR 8.8-16.5). The most common bleeding events occurring were: cutaneous bleeding (n = 15 – 88.2%), bleeding from the oral cavity (n = 14 – 82.4%), menorrhagia (n = 13 – 74.5%), bleeding in small wounds (n = 11 – 64.7%) and dental extractions (n = 11 – 64.7%). In addition, eight patients (47%) presented shoulder and knee pain. Among male patients (n = 13) the MED age was 42.5 years (IQR 24-54.8) and the bleeding score MED was 13 (IQR 8-17.8). The most common bleeding events occurring were: bleeding from the oral cavity (10 – 76.9%), epistaxis (8 – 61.5%), cutaneous bleeding (7 – 53.8%), dental extractions (7 – 53.8%), and other types of bleeding (7 – 53.8%). Shoulder pain was related by five patients (38.5%). Based on the clinical hemorrhagic profile of patients, it was found a statistical difference (p = 0.044) between male and female regarding epistaxis (61.5% in male and 29.4% female patients). This study was limited by aggregation of patients in one group independently of VWD type and no patients were genotyped. Furthermore, this is an ongoing project and the number of participants needs to be increased to draw conclusions. We thank our participants, Fapemig, Hemominas, and the CGSH of the Ministry of Health.