Current approaches to diagnostic testing in von Willebrand Disease.

Transfus Apher Sci

Children's Hospital Colorado, University of Colorado Hemophilia and Thrombosis Center, 12800 E 19th Ave, Mail Stop 8302, Aurora, CO, 80045, United States. Electronic address:

Published: August 2018

Von Willebrand Disease (VWD) is considered the most common inherited bleeding disorder. It has multiple subtypes and a primary symptom of mucocutaneous bleeding. Some researchers in this field speculate that inherited disorders of platelet function may be as common but underdiagnosed due to the difficulty of accessing testing. The diagnostic approach for this disease has evolved as new instruments and diagnostic testing have become available. The ISTH-Bleeding Assessment Tool is a validated instrument that is used to screen patients referred for bleeding symptoms for further laboratory testing. The three main screening tests used in the diagnosis of VWD include von Willebrand Factor (VWF) antigen, platelet-dependent VWF activity, and factor VIII activity. Improvements in laboratory assays discussed include changes in how traditional assays are performed as well as the addition of new laboratory assays. The role of genetic testing and management of patients with borderline low von Willebrand factor are also discussed.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.transci.2018.07.005DOI Listing

Publication Analysis

Top Keywords

von willebrand
16
diagnostic testing
8
willebrand disease
8
willebrand factor
8
laboratory assays
8
testing
5
current approaches
4
approaches diagnostic
4
von
4
testing von
4

Similar Publications

Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine malignancy of the skin. The cell of origin of MCC is thus far unknown and proposed cells of origin include Merkel cells, pro-/pre- or pre-B cells, epithelial stem cells, and dermal stem cells. In this study, we aimed to shed further light on the possibility that a subset of MCC tumors arise from epithelial stem cells of the skin by examining the expression of hair follicle and epidermal stem cell markers in MCC and normal human skin.

View Article and Find Full Text PDF

A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.

Am J Med Genet A

June 2021

The Folkhaelsan Department of Medical Genetics, The Folkhaelsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.

Article Synopsis
  • - Trichothiodystrophy is a rare genetic disorder characterized by abnormal hair development and affects multiple body systems; this study focuses on two Finnish families with this condition.
  • - The researchers identified a new mutation in the MPLKIP gene through whole-exome sequencing, confirming the diagnosis of non-photosensitive trichothiodystrophy type 4 (TTD4) in three patients.
  • - This report enhances understanding of TTD4 by detailing the patients' unique physical traits and comparing their clinical features with previously documented cases.
View Article and Find Full Text PDF
Article Synopsis
  • A study looked at a treatment called L4-DRG stimulation for patients with a painful condition called CRPS.
  • The researchers tested how patients felt different sensations like pain and touch before and after 3 months of treatment.
  • They found that the treatment helped reduce pain for the patients, but it did not change how they felt warmth or touch.
View Article and Find Full Text PDF

Lichen planus pigmentosus-inversus in a Finnish man.

J Eur Acad Dermatol Venereol

February 2019

Department of Dermatology, Allergology and Venereology, Helsinki University Central Hospital, Helsinki, Finland.

View Article and Find Full Text PDF

Oral Platelet-Derived Growth Factor and Vascular Endothelial Growth Factor Inhibitor Sunitinib Prevents Chronic Allograft Injury in Experimental Kidney Transplantation Model.

Transplantation

January 2016

1 Transplantation Laboratory, University of Helsinki, Helsinki, Finland. 2 Department of surgery, Oulu University Central Hospital, Oulu, Finland. 3 Transplantation and Liver Surgery Unit, Helsinki University Central Hospital, Helsinki, Finland. 4 Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland.

Article Synopsis
  • Increased expression of PDGF and VEGF is linked to chronic rejection in kidney transplants, which can lead to allograft loss.
  • Sunitinib, a tyrosine kinase inhibitor, was tested in a rat model and shown to significantly reduce neointimal formation, smooth muscle cell activity, and chronic rejection signs while improving kidney function.
  • The findings suggest that targeting both PDGF and VEGF with sunitinib may offer a promising new approach for preventing chronic rejection in kidney transplant patients.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!