Study of Histological Samples From Patients With Hereditary Haemorrhagic Telangiectasia

Overview

In this study the investigators will obtain histological samples from people with hereditary haemorrhagic telangiectasia (HHT, also known as Osler-Weber-Rendu Syndrome).

HHT is an inherited condition that leads to the development of dilated and fragile blood vessels. We propose to obtain small skin samples from patients with HHT in order to analyze the samples using histological methods, and study the properties of vascular endothelial cells derived from patients. We hypothesize that these cells will show differences when compared to normal endothelial cells, which may be confirmed in single time point analyses in histological samples. We anticipate that that these findings may help to explain aspects of the HHT disease phenotype.

Conditions

Eligibility

Locations (1)