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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.
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Inclusion Criteria:
Exclusion Criteria:
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Patients with hereditary hemorrhagic telangiectasia (HHT)
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| Name | Affiliation | Role |
|---|---|---|
| Claire L 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 |
|---|---|---|---|
| 27107394 | Result | Shovlin CL, Gilson C, Busbridge M, Patel D, Shi C, Dina R, Abdulla FN, Awan I. Can Iron Treatments Aggravate Epistaxis in Some Patients With Hereditary Hemorrhagic Telangiectasia? Laryngoscope. 2016 Nov;126(11):2468-2474. doi: 10.1002/lary.25959. Epub 2016 Apr 23. |
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| ID | Type | URL | Comment |
|---|---|---|---|
| Supporting information within Laryngoscope Paper Data Supplement | View IPD |
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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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Histological samples
Histology images in Supporting Figure 1 Although there is a warning that the URL does not appear to link to a functioning webpage, it did when checked on 23 September 2023 |
| 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 |