Semiquantitative expression of interleukin-6 in a patient with von Willebrand Disease – case report Brenda Pezzuol Silva, Gustavo Guedes Teixeira, Monique Matsuda, Mônica Valéria Marquezini, Daniel Siquieroli Vilas Boas

Abstract

Von Willebrand's disease is the most common hereditary autosomal bleeding disorder and represents a range of quantitative and qualitative pathologies of the adhesive glycoprotein called Von Willebrand factor (VWF) caused by a mutation on chromosome 12. This glycoprotein's functionality is linked to facilitating adhesion of normal platelets in primary homeostasis and acts as a carrier of factor VIII in secondary homeostasis. The objective of this work was to describe a clinical case in which the expression of the Interleukin-6 gene was determined. A female patient, 27 years old and diagnosed with Von Willebrand Disease, participated in this study. Total RNA from peripheral blood was extracted using the TRIzol method and served as a template for cDNA synthesis by reverse transcription. IL-6 gene expression was semiquantified by PCR. Student's t test was used to compare variables. The study found that IL-6 gene expression is increased by 78.87% (P<0.001) in the participant with Von Willebrand Disease. Markers of endothelial injury/dysfunction and inflammation are increased in individuals with Von Willebrand Disease and this interrelationship supports the concept of a central role for endothelial injury and coagulation abnormalities in predisposing patients to acute coronary and vascular syndromes.