HHT and wider medical issues
Research type
Research Study
Full title
Online survey based examination of phenotypes in hereditary haemorrhagic telangiectasia (HHT)
IRAS ID
211788
Contact name
Claire Shovlin
Contact email
Duration of Study in the UK
4 years, 0 months, 0 days
Research summary
As described on NHS Choices, Hereditary Haemorrhagic Telangiectasia (HHT) is an inherited vascular condition that usually causing nosebleeds, skin blood spots, and/or anaemia as a result of bleeding from the nose or gut. The majority of people with HHT also have abnormal blood vessels (arteriovenous malformations) in internal organs such as the lungs, liver and brain.
Management of this multisystem, lifelong disorder is highly challenging.
The Lead Applicant has spent 24 years working on this rare disease, and identified multiple areas where more evidence is required to assist clinicians and patients. These issues have been addressed as far as possible through the HHT cohorts reviewed in clinic, and in many cases, case reports, small series, or targeted study research
questions have generated the required data. There are further questions that cannot be addressed solely in this manner due to insufficient statistical power, or perceived risk of bias.A particular issue is what happens for people with HHT in terms of dietary and other environmental factors. Our previous study (12/EM/0073) identified surprising links between diet and nosebleeds; diet and migraines; and other unsuspected relationships. Our other observational studies emphasised potential contributions from exercise and flight travel.
The aim of this study is to evaluate further HHT related phenotypes in relation to diet, exercise and other potentially modifiable factors.
This will use a survey for web based entry, to be filled in by people with HHT contacted via HHT clinics (in person), newsletters, and patient self help groups both in the UK and internationally, as for our previous highly successful surveys (see 5.2 above).
REC name
London - South East Research Ethics Committee
REC reference
16/LO/1909
Date of REC Opinion
23 Nov 2016
REC opinion
Favourable Opinion