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| Name | Class |
|---|---|
| Hammersmith Hospitals NHS Trust | OTHER |
We will address coagulation parameters in hereditary haemorrhagic telangiectasia (HHT) compared to controls.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| HHT patients | Patients with hereditary haemorrhagic telangiectasia. Blood sample to be taken. |
| |
| Controls | People without hereditary haemorrhagic telangiectasia. Blood sample to be taken. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood sample to be taken. | Other | Blood sample to be taken. |
|
Inclusion Criteria:
Exclusion Criteria:
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'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."
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| Name | Affiliation | Role |
|---|---|---|
| Claire Shovlin | Imperial College London | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Imperial College Hammersmith Campus | London | W12 0NN | United Kingdom |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 18000608 | Result | 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. | |
| 22169361 | Result | 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. |
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| ID | Term |
|---|---|
| D013683 | Telangiectasia, Hereditary Hemorrhagic |
| ID | Term |
|---|---|
| D020141 | Hemostatic Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D013684 | Telangiectasis |
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Plasma sample aliquots.
| 24586400 | Result | 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. |
| D006474 |
| Hemorrhagic Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D054079 | Vascular Malformations |
| D018376 | Cardiovascular Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |