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Open Access 01-12-2022 | Hereditary Hemorrhagic Telangiectasia | Research

Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT

Authors: Thi Thao Truc Le, Guillaume Martinent, Sophie Dupuis-Girod, Antoine Parrot, Anne Contis, Sophie Riviere, Thierry Chinet, Vincent Grobost, Olivier Espitia, Brigitte Dussardier-Gilbert, Laurent Alric, Guillaume Armengol, Hélène Maillard, Vanessa Leguy-Seguin, Sylvie Leroy, Murielle Rondeau-Lutz, Christian Lavigne, Shirine Mohamed, Laurent Chaussavoine, Pascal Magro, Julie Seguier, Mallorie Kerjouan, Sylvie Fourdrinoy

Published in: Orphanet Journal of Rare Diseases | Issue 1/2022

Abstract

Background

Hereditary hemorrhagic telangiectasia (HHT) disease is a rare genetic disorder with symptoms and complications that can significantly affect patients’ daily lives. To date, no scale has been validated to assess the specific symptoms of this disease on the quality of life (QOL) of HHT patients. This makes it difficult for clinicians to accurately measure the quality of life of patients with HHT. The present study aims to develop and validate a QOL measurement tool specific to HHT disease: the QOL questionnaire in HHT (QoL-HHT).

Methods

A quantitative, non-interventional, multi-center study involving HHT patients in twenty French HHT expert centers was conducted. A calibration sample of 415 HHT patients and a validation sample of 228 HHT patients voluntarily participated in the study. Data were analyzed using exploratory factor analysis (EFA), confirmatory factor analysis (CFA), Exploratory Structural Equation Modeling (ESEM) analyses, reliability analyses, and correlational analyses.

Results

The EFA, CFA and ESEM results allowed us to provide evidence of the factorial structure of a questionnaire composed of 24 items measuring 6 domains of QOL: Physical limitations, social relationships, concern about bleeding, relationship with the medical profession, experience of symptoms, and concern about the evolution of the disease. Cronbach’s alpha coefficients (> 0.70) demonstrated reliable internal consistency of all the QoL-HHT scores (dimensions). The results of the test–retest provided further evidence of the reliability of the QOL-HHT scores over time. Correlational analyses provided evidence for the convergent validity of the QoL-HHT scores.

Conclusions

We developed a simple and quick self-assessment tool to measure quality of life specific to HHT disease. This study demonstrated reliability and validity of our QoL-HHT scores. It is a very promising tool to evaluate the impact of HHT disease on all aspects of the quality of life of HHT patients in order to offer them individualized medico-psycho-social support.

Trial registration: ClinicalTrials, NCT03695874. Registered 04 October 2018, https://www.clinicaltrials.gov/ct2/show/NCT03695874

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Plauchu H, De Chadaverian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet. 1989;32:291–7.CrossRef

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu–Osler–Weber syndrome). Am J Med Genet. 2000;91(1):66–7.CrossRef

Kritharis A, Al-Samkari H, Kuter DJ. Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective. Haematologica. 2018;103(9):1433–43. https://doi.org/10.3324/haematol.2018;103(9):1433-1443.CrossRefPubMedPubMedCentral

McDonald J, Bayrak-Toydemir P, DeMille D, Wooderchak-Donahue W, Whitehead K. Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2). Genet Med. 2020;22(7):1201–5. https://doi.org/10.1038/s41436-020-0775-8.CrossRefPubMed

Association Maladie de Rendu-Osler AMRO-HHT-France. La maladie de Rendu-Osler. In: Collection Espoirs-Maladies Rares. Fondation Groupama. 2019. https://www.fondation-groupama.com/wp-content/uploads/2019/06/RENDU-OSLER-3350-93304-052019.pdf. Accessed 2 Sept 2021.

Brunet G, Lesca G, Génin E, Dupuis-Girod S, Bideau A, Plauchu H, Dutreuilh C. Thirty years of research into Rendu-Osler-Weber disease in France: historical demography population genetics and molecular biology. Population. 2009;2(64):273–91. https://doi.org/10.3917/popu.902.0305.CrossRef

Fantini-Hauwel C, Boute-Benejean O, Lupan L, Ober E, Antoine P. Vécu de la maladie de Rendu-Osler: une analyse qualitative exploratoire des patients affectés par des épistaxis fréquentes. In: Christophe V, Ducro C, Antoine P, editors. Psychologie de la santé: Famille, Santé et Société. France: Presses Universitaires du Septentrion; 2014. p. 141–5.

Pasculli G, Resta F, Guastamacchia E, Di Gennaro L, Suppressa P, Sabbà C. Health-related quality of life in a rare disease: hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease. Qual Life Res. 2004;13(10):1715–23. https://doi.org/10.1007/s11136-004-7865-y.CrossRefPubMed

Study protocol for the World Health Organization project to develop a Quality of Life assessment instrument (WHOQOL). Qual Life Res. 1993;2(2):153–159. https://doi.org/10.1007/bf00435734.

10.

Ferrans CE, Powers MJ. Psychometric assessment of the quality of life index. Res Nurs Health. 1992;15(1):29–38. https://doi.org/10.1002/nur.4770150106.CrossRefPubMed

11.

Cohen JS, Biesecker BB. Quality of life in rare genetic conditions: a systematic review of the literature. Am J Med Genet. 2010;152A(5):1136–56. https://doi.org/10.1002/ajmg.a.33380.CrossRefPubMed

12.

Leventhal H, Colman S. Quality of life: a process review. Psychol Health. 1997;12(6):753–67. https://doi.org/10.1080/08870449708406737.CrossRef

13.

Geisthoff UW, Heckmann K, D’Amelio R, Grünewald S, Knöbber D, Falkai P, König J. Health-related quality of life in hereditary hemorrhagic telangiectasia. Otolaryngol Head Neck Surg. 2007;136:726–33. https://doi.org/10.1016/j.otohns.2006.12.019.CrossRefPubMed

14.

Martinent G, Carrot M, Chirac A, Dupuis-Girod S, Fargeton AE, Blois Da Conseicao S, Foudrinoy S. Hereditary hemorrhagic telangiectasia and health-related quality of life: a qualitative investigation. Qual Life Res. 2020. https://doi.org/10.1007/s11136-020-02415-7.CrossRefPubMed

15.

Brousse C, Boisaubert B. La qualité de vie et ses mesures. Rev Med Interne. 2007;28(7):458–62. https://doi.org/10.1016/j.revmed.2007.02.010.CrossRefPubMed

16.

Ware JE Jr, Sherbourne CD. The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care. 1992;30(6):473–83.CrossRef

17.

Zarrabeitia R, Farinas-Alvarez C, Santibanez M, Senaris B, Fontalba A, Botella LM, Parra JA. Quality of life with hereditary haemorrhagic telangiectasia (HHT). Health Qual Life Outcomes. 2017;15(1):19. https://doi.org/10.1186/s12955-017-0586-z.CrossRefPubMedPubMedCentral

18.

EuroQol group . EuroQol, a new facility for the measurement of healthrelated quality of life. Health Policy. 1990;16:199–208. https://doi.org/10.1016/0168-8510(90)90421-9.CrossRef

19.

Al-Deen S, Bachmann-Harildstad G. A grading scale for epistaxis in hereditary haemorrhagic teleangectasia. Rhinology. 2008;46(4):281–4.PubMed

20.

Quittner AL, Buu A, Messer MA, Modi AC, Watrous M. Development and validation of the cystic fibrosis questionnaire in the United States. Chest. 2005;128(4):2347–54. https://doi.org/10.1378/chest.128.4.2347.CrossRefPubMed

21.

Cooper O, McBain H, Tangayi S, Telfer P, Tsitsikas D, Yardumian A, Mulligan K. Psychometric analysis of the adult sickle cell quality of life measurement information system (ACSQ-Me) in a UK population. Health Qual Life Outcomes. 2019. https://doi.org/10.1186/s12955-019-1136-7.CrossRefPubMedPubMedCentral

22.

Olitsky SE. Hereditary hemorrhagic telangiectasia: diagnosis and management. Am Fam Phys. 2010;82(7):785–90.

23.

Leplège A, Ecosse E, Pouchot J, Coste J, Perneger T. Le questionnaire MOS SF-36: manuel de l’utilisateur et guide d’interprétation des scores. Paris: Estem; 2001.

24.

Rocchi M, Pelletier L, Cheung S, Baxter D, Beaudry S. Assessing need supportive and need thwarting interpersonal behaviours: The interpersonal behaviours questionnaire. Pers Indiv Differ. 2017;104:423–33.CrossRef

25.

Jermann F, Van der Linden M, d’Acremont M, Zermatten A. Cognitive emotion regulation questionnaire (CERQ). Eur J Psy Ass. 2006;22(2):126–31.CrossRef

26.

Lépine JP, Godchau M, Brun P, Lempérière T. Évaluation de l’anxiété et de la dépression chez des patients hospitalisés dans un service de médecine interne [Anxiety and depression evaluation in patients hospitalized in an internal medicine unit]. Ann Med Psychol. 1985;143(2):175–89.

27.

Ware JE, Sherbourne CD. The MOS 36-item short-form health survey (SF-36). Med Care. 1992;30:473–83. https://doi.org/10.1097/00005650-199206000-00002.CrossRefPubMed

28.

Sarason IG, Levine HM, Basham RB, Sarason BR. Assessing social support: the social support questionnaire. J Pers Soc Psychol. 1983;44(1):127–39. https://doi.org/10.1037/0022-3514.44.1.127.CrossRef

29.

Garnefski N, Kraaij V, Spinhoven P. Negative life events, cognitive emotion regulation and emotional problems. Personal Individ Differ. 2001;30(8):1311–27. https://doi.org/10.1016/S0191-8869(00)00113-6.CrossRef

30.

Garnefski N, Kraaij V, Spinhoven P. Handleiding voor het gebruik van de Cognitive Emotion Regulation Questionnaire (CERQ) [Manual for the use of the Cognitive Emotion Regulation Questionnaire (CERQ)]. Leiderdorp: DATEC. 2002.

31.

Zigmond AS, Snaith RP. The hospital anxiety and depression scale. Acta Psychiatr Scand. 1983;67(6):361–70. https://doi.org/10.1111/j.1600-0447.1983.tb09716.x.CrossRefPubMed

32.

Snaith RP. The hospital anxiety and depression scale. Health Qual Life Outcomes. 2003;1:1–29. https://doi.org/10.1186/1477-7525-1-29.CrossRef

33.

Floyd FJ, Widaman KF. Factor analysis in the development and refinement of clinical assessment instruments. Psychol Assess. 1995;7(3):286–99. https://doi.org/10.1037/1040-3590.7.3.286.CrossRef

34.

Roberson RB, Elliott TR, Chang JE, Hill JN. Exploratory factor analysis in rehabilitation psychology: a content analysis. Rehabil Psychol. 2014;59(4):429–38. https://doi.org/10.1037/a0037899.CrossRefPubMed

35.

Isoard-Gautheur S, Martinent G, Guillet-Descas E, Trouilloud D, Cece V, Mette A. Development and evaluation of the psychometric properties of a new measure of athlete burnout: the athlete burnout scale. Int J Stress Manag. 2018;25(S1):108–23. https://doi.org/10.1037/str0000083.CrossRef

36.

Martinent G, Guillet-Descas E, Moiret S. A reciprocal effects model of the temporal ordering of basic psychological needs and motivation. J Sport Exerc Psychol. 2015;37(2):117–26. https://doi.org/10.1123/jsep.2014-0093.CrossRefPubMed

37.

Muthén LK, Muthén BO. Mplus User’s Guide. In: Version 8 Mplus User’s Guide. Statmodel. 2017. https://www.statmodel.com/download/usersguide/MplusUserGuideVer_8.pdf. Accessed Apr 2017.

38.

Marsh HW, Morin AS, Parker PD, Kaur G. Exploratory structural equation modeling: an integration of the best features of exploratory and confirmatory factor analysis. Annu Rev Clin Psychol. 2014;10(1):85–110. https://doi.org/10.1146/annurev-clinpsy-032813-153700.CrossRefPubMed

39.

Raykov T. Estimation of congeneric scale reliability using covariance structure analysis with nonlinear constraints. Br J Math Stat Psychol. 2001;54(2):315–23. https://doi.org/10.1348/000711001159582.CrossRefPubMed

40.

Cohen J. Statistical power analysis for the behavioral sciences. Hillsdale, NJ: Lawrence Erlbaum Associates; 1992.

41.

Merlo CA, Yin LX, Hoag JB, Mitchell SE, Reh DD. The effects of epistaxis on health-related quality of life in patients with hereditary hemorrhagic telangiectasia: Epistaxis-related quality of life in HHT. Int Forum Allergy Rhinol. 2014;4(11):921–5.CrossRef

42.

Chaumet H. Maladie génétique et souffrance psychique. Le J des Psychologues. 2010;243:51–4. https://doi.org/10.3917/jdp.243.0051.CrossRef

43.

Loaëc M, Moriniere S, Hitier M, Ferrant O, Plauchu H, Babin E. Psychosocial quality of life in hereditary haemorrhagic telangiectasia patients. Rhin. 2011;49(2):164–7. https://doi.org/10.4193/Rhino10.090.CrossRef

44.

Hoag JB, Terry P, Mitchell S, Reh D, Merlo CA. An epistaxis severity score for hereditary hemorrhagic telangiectasia. Am Laryngol. 2010;120(4):838–43. https://doi.org/10.1002/lary.20818.CrossRef

45.

Baysal M, Ümit E, Kırkızlar HO, Özdöver AC, Demir AM. Thalidomide for the management of bleeding episodes in patients with hereditary hemorrhagic telangiectasia: effects on epistaxis severity score and quality of life. Tjh. 2019;36(1):43–7. https://doi.org/10.4274/tjh.galenos.2018.2018.0190.CrossRef

46.

Peretti P. Se sacrifier pour exister. Dialogue. 2014;204(2):79–90. https://doi.org/10.3917/dia.204.0079.CrossRef

47.

Coopman AL, Janssen C. La maladie génétique au cœur de la fratrie : « tabou » et « secret ». Cahiers de Psychologie Clinique. 2006;27(2):39–54. https://doi.org/10.3917/cpc.027.54.CrossRef

48.

Serrano JA. Secret partagé: secret formulable en thérapie familiale. Thérapie Familiale; 1983. p. 347–358.

49.

Biesecker BB, Erby L. Adaptation to living with a genetic condition or risk: a mini- review. Clin Genet. 2008;74(5):401–7. https://doi.org/10.1111/j.1399-0004.2008.01088.x.CrossRefPubMedPubMedCentral

50.

Lazarus RS, Folkman S. Stress, Appraisal, and Coping. New York: Springer Publishing Company; 1984.

51.

Ingrand I, Ingrand P, Gilbert-Dussardier B, Defossez G, Jouhet V, Migeot V, et al. Altered quality of life in Rendu-Osler-Weber disease related to recurrent epistaxis. Rhin. 2011;49(2):155–62. https://doi.org/10.4193/Rhino09.138.CrossRef

52.

Patrick DL, Erickson P. Health status and health policy: Quality of life in health care evaluation and resource allocation. Oxford: Oxford University Press; 1993.

53.

Kuan EC, Peng KA, Thompson CF, Suh JD, Wang MB. Sinonasal quality of life outcomes following laser treatment of epistaxis related to hereditary hemorrhagic telangiectasia. Lasers Med Sci. 2017;32(3):527–31. https://doi.org/10.1007/s10103-017-2144-7.CrossRefPubMed

54.

Kline P. Personality: the psychometric view. London: Routledge; 1993.

55.

Mcdonald JD. Measuring personality constructs: The advantages and disadvantages of self-reports, informant reports and behavioural assessments. Enquire. 2008;1(1):1–19.

56.

John OP, Benet-Martinez V. Measurement: Reliability, construct validation, and scale construction. In: Reis HT, Judd CM, editors. Handbook of research methods in social and personality psychology. Cambridge: Cambridge University Press; 2000. p. 339–69.

Title: Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT
Authors: Thi Thao Truc Le
Guillaume Martinent
Sophie Dupuis-Girod
Antoine Parrot
Anne Contis
Sophie Riviere
Thierry Chinet
Vincent Grobost
Olivier Espitia
Brigitte Dussardier-Gilbert
Laurent Alric
Guillaume Armengol
Hélène Maillard
Vanessa Leguy-Seguin
Sylvie Leroy
Murielle Rondeau-Lutz
Christian Lavigne
Shirine Mohamed
Laurent Chaussavoine
Pascal Magro
Julie Seguier
Mallorie Kerjouan
Sylvie Fourdrinoy
Publication date: 01-12-2022
Publisher: BioMed Central
Keyword: Hereditary Hemorrhagic Telangiectasia
Published in: Orphanet Journal of Rare Diseases / Issue 1/2022
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-022-02426-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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