Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia

Investigation of Coagulation Parameters in Hereditary Haemorrhagic

We will address coagulation parameters in hereditary haemorrhagic telangiectasia (HHT) compared to controls.

Study Overview

• Status: Completed
• Conditions: Telangiectasia, Hereditary Hemorrhagic
• Intervention / Treatment: Other: Blood sample to be taken.

Detailed Description

The inherited disease hereditary haemorrhagic telangiectasia (HHT) causes bleeding from dilated fragile vessels, particularly in the nose and gut. However, many HHT patients develop deep venous thromboses and/or pulmonary embolism, necessitating treatments with anticoagulants that further impair control of their haemorrhagic state. Our initial observations using general coagulation tests suggest that the blood of HHT patients is intrinsically hypercoagulable.

We hypothesize that the genetically-determined abnormality in the blood vessels of HHT patients leads to alteration in the concentrations or activity of one or several of the proteins which affect blood clotting leading to a hypercoagulable state.

We propose to study levels and activity of blood coagulation factors in people with hereditary haemorrhagic telangiectasia and in normal volunteers. This should define the significance and basis for our initial observations, and will have significant implications for the clinical management of HHT patients.

• Study Type: Observational
• Enrollment (Actual): 100

Contacts and Locations

Study Locations

• United Kingdom
  • London, United Kingdom, W12 0NN
    • Imperial College Hammersmith Campus

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

'Patients with HHT' have a clinical diagnosis of hereditary haemorrhagic telangiectasia (HHT)

'Normal controls' have NO clinical diagnosis of hereditary haemorrhagic telangiectasia (HHT), and are not blood relatives of someone with HHT."

Description

Inclusion Criteria:

• Patients with HHT and normal controls

Exclusion Criteria:

• Previous thrombosis, recent ill health

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
HHT patients; Patients with hereditary haemorrhagic telangiectasia. Blood sample to be taken.	Other: Blood sample to be taken.; Blood sample to be taken.
Controls; People without hereditary haemorrhagic telangiectasia. Blood sample to be taken.	Other: Blood sample to be taken.; Blood sample to be taken.

Collaborators and Investigators

• Sponsor: Imperial College London
• Collaborators: Hammersmith Hospitals NHS Trust
• Investigators: Principal Investigator: Claire Shovlin, Imperial College London

Publications and helpful links

General Publications

• Shovlin CL, Sulaiman NL, Govani FS, Jackson JE, Begbie ME. Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): association with venous thromboembolism. Thromb Haemost. 2007 Nov;98(5):1031-9.
• Shovlin CL, Chamali B, Santhirapala V, Livesey JA, Angus G, Manning R, Laffan MA, Meek J, Tighe HC, Jackson JE. Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets. PLoS One. 2014 Feb 19;9(2):e88812. doi: 10.1371/journal.pone.0088812. eCollection 2014.
• Livesey JA, Manning RA, Meek JH, Jackson JE, Kulinskaya E, Laffan MA, Shovlin CL. Low serum iron levels are associated with elevated plasma levels of coagulation factor VIII and pulmonary emboli/deep venous thromboses in replicate cohorts of patients with hereditary haemorrhagic telangiectasia. Thorax. 2012 Apr;67(4):328-33. doi: 10.1136/thoraxjnl-2011-201076. Epub 2011 Dec 14.

Study record dates

Study Major Dates

• Study Start: August 1, 2004
• Primary Completion (Actual): July 1, 2007
• Study Completion (Actual): July 1, 2008

Study Registration Dates

• First Submitted: September 29, 2005
• First Submitted That Met QC Criteria: September 29, 2005
• First Posted (Estimated): October 3, 2005

Study Record Updates

• Last Update Posted (Actual): September 28, 2023
• Last Update Submitted That Met QC Criteria: September 25, 2023
• Last Verified: September 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Congenital Abnormalities; Hematologic Diseases; Hemorrhagic Disorders; Hemostatic Disorders; Cardiovascular Abnormalities; Vascular Malformations; Telangiectasis; Telangiectasia, Hereditary Hemorrhagic
• Other Study ID Numbers: IC/CLS6