Development of a Quality of Life Measurement Scale in Hereditary Haemorrhagic Telangiectasia (HHT) Disease.

Hospices Civils de Lyon643 enrolled

Overview

Hereditary Haemorrhagic Telangiectasia (HHT) is a rare inherited genetic disease of autosomal dominant inheritance with a prevalence of 1/6000. It is manifested by haemorrhages, mucocutaneous telangiectasias and visceral arteriovenous malformations. These symptoms significantly affect the daily lives of patients, their social relationships and their working lives. HAS (Haute Autorité de Santé) national recommendations focus on assessing and improving the quality of life (QOL) of patients. Many scales for measuring QOL exist but they are most often general and therefore have the disadvantage of not taking into account the particularities of pathologies and their symptoms and do not allow to have a precise vision of their impact on QOL. It is important to be able to evaluate this impact, to determine its nature and to quantify it so that health professional can adapt their proposal for the management of HHT patients. And only the development of a specific and validated QOL measurement scale will allow them to access this information. The aim of this study is to develop a scale of measurement of quality of life in HHT disease and to validate it, a scale specific to HHT, simple and fast to fill by the patients themselves.

Study Type

OBSERVATIONAL

Enrollment

643

Conditions

Hereditary Hemorrhagic Telangiectasia

Interventions

Patients will be asked to complete questionnaires. Group 1: the purpose is to simplify a 75 items scale by a statistical analysis of the data collected from 400 patients. The statistical purification will allow to finalize an abbreviated scale (20-25 items). Doctors specialized in Hereditary Haemorrhagic Telangiectasia may suggest that patients enter the study. After submission of the information notice and collection of their non-opposition, patients will have the choice to fill out the paper version or the electronic version of the scale and questionnaires.

Phase 2 : fill out 1 scale and 4 questionnairesOTHER

Patients will be asked to complete questionnaires. Group 2: the purpose is to validate the abbreviated scale by a statistical analysis of the data collected from 200 patients. The statistical validation will allow to check the consistency and correlation of the abbreviated scale with other scales: a general Quality Of Life scale (SF36), an anxiety and depression scale (HAD), a social support scale (SSQ6) and a scale of regulation emotional (CERQ) and to test and re-test to check fidelity of the abbreviated scale. Doctors specialized in Hereditary Haemorrhagic Telangiectasia may suggest that patients enter the study. After submission of the information notice and collection of their non-opposition, patients will have the choice to fill out the paper version or the electronic version of the scale and questionnaires.

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * over 18 years * able to read French * with clinically confirmed Hereditary Haemorrhagic Telangiectasia disease (presence of at least 3 Curaçao criteria) and / or molecular biology * who received the information and did not object to participate in the study Exclusion Criteria: * None

Outcomes

Primary Outcomes

Validity of the factor structure of the developed measurement scale.

Saturation coefficients of the exploratory factor analysis observed on the sample of 400 participants, confirmatory factor analysis (CFA) adjustment indices on the sample of 200 participants, and factorial weights observed on the AFC will be combined to evaluate the structural validity of the measurement scale.

Time frame: 1 hour

Validity of the reliability of the developed measurement scale.

Cronbach alphas coefficients, composite reliability values (rho) and percentages of extracted variance will be combined to assess the Reliability of the measurement scale.