Hereditary Haemorrhagic Telangiectasia (HHT)
Conditions
Brief summary
Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an inherited multisystemic disorder with recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. The purpose of this study is to provide data about multiple clinical aspects of HHT and responses to treatment. For comparison of some aspects also data of non-affected relatives is collected (second cohort). the questionnaire has been designed primarily for web based entry, but can also be circulated in paper format on request.
Detailed description
Specific aspects include potential consequences from iron deficiency, efficacy and safety of self-packing, effect of female sex hormones, mortality, effects on the immune system.
Interventions
OTHERquestionnaire
a questionnaire based study
Sponsors
University Hospital, Essen
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* a diagnosis of Hereditary Haemorrhagic Telangiectasia
Exclusion criteria
* unable to provide informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Effect of nasal self-packing to treat epistaxis on the quality of life in patients with HHT measured mainly by Glasgow Benefit Inventory (GBI) | 34 months | Hereditary Haemorrhagic Telangiectasia is characterised by recurrent epistaxis which can lead to a feeling to lose control. The investigators examine whether the use of high volume low pressure nasal packing is a secure and practical method to improve patients' quality of life. |
Secondary
| Measure | Time frame |
|---|---|
| Number of participants with treatment-related adverse events as assessed by CTCAE v4.0 | 34 months |
Other
| Measure | Time frame |
|---|---|
| Number of patients with restless legs syndrome according to a questionnaire including the criteria by Allen et al., Sleep Medicine 4(2003) 101-119 | 34 months |
| Number of infectious diseases and complications in comparison to healthy spouses | 34 months |
| Hormonal changes: Change of number of visible telangiectases during menstrual cycle and pregnancy | 34 months |
Countries
Germany
Outcome results
None listed