Isolation and Characterization of Endothelial Colony Forming Cells (ECFCs) in Patients Diagnosed With Von Willebrand Disease, Acquired Von Willebrand Syndrome and Healthy Subjects
The goal of this observational study is to learn how endothelial colony-forming cells (ECFCs) behave in people with von Willebrand disease (VWD), acquired von Willebrand syndrome (AVWS), and in healthy individuals.
⁃ Patients with von Willebrand disease (VWD) or acquired von Willebrand syndrome (AVWS)
⁃ Age ≥ 16 years.
⁃ Previous diagnosis of von Willebrand disease or acquired von Willebrand syndrome, defined as one of the following:
⁃ Group A - Type 1 VWD:
⁃ VWF levels ≤ 30 IU/dL, regardless of bleeding history, or
⁃ VWF levels ≤ 0.50 IU/mL in the presence of abnormal bleeding.
⁃ Group B - Congenital or acquired VWD (VWD or AVWS):
⁃ Diagnosis of congenital or acquired VWD, with or without gastrointestinal bleeding.
⁃ Group C - Subgroup study (Type 2A VWD):
⁃ One patient with type 2A VWD selected for a dedicated sub-study involving allele-specific siRNA silencing of the mutant allele.
⁃ Ability and willingness to provide written informed consent.
⁃ For patients without prior molecular characterization: willingness to undergo VWF gene sequencing and to sign the related informed consent.
• No prior diagnosis of VWD, bleeding disorders, or thrombotic disorders.
• Willingness to donate blood for study procedures.
• Ability and willingness to provide written informed consent.
• Age ≥ 18 years.