HAEMOSTASIS AND THROMBOSIS

The Hemostasis and Thrombosis Laboratory is dedicated to the investigation of platelet, hemorrhagic and thrombotic disorders associated with acquired or hereditary anomalies. Since the beginning, this group has specialized in the study of von Willebrand factor (VWF) and its protease ADAMTS13, encompassing both physiological and pathological implications.

The laboratory serves as a reference center for the diagnosis of von Willebrand disease (VWD), one of the most common coagulation disorders in the general population. The research objectives of the group include the search and identification of genetic variants in the VWF gene, along with the study of phenotype-genotype correlation in patients.

In the study of thrombotic microangiopathies (TMA), the laboratory has been a pioneer in the country in developing tools to diagnose two types of TMA: Thrombotic Thrombocytopenic Purpura (TTP) and Atypical Hemolytic Uremic Syndrome (aHUS). These rare diseases can be with life-threatening and bring severe complications in the absence of proper treatment. In TTP, the etiological factor of the disease is a deficiency or decreased activity of ADAMTS13. In aHUS, the pathophysiological mechanism involves dysregulation of the alternative complement pathway, leading to uncontrolled activation. Additionally, the laboratory is currently developing tools, including both proteic and genetic level investigations, for the study of diseases associated with complement abnormalities, in conjunction with the implementation of an institutional registry for patients with suspected TMA.

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by venous or arterial thrombosis, as well as an increased risk of miscarriage and intrauterine growth retardation. Literature evidence suggests a role of complement in the pathophysiology of this disease. Hence, another general objective of the laboratory is to determine whether complement abnormalities are present in patients with APS.