title: The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study.
abstract: The aim of the present study was to understand the context and psychological impact for patients diagnosed with hereditary hemorrhagic telangiectasia (HHT). Semi-structured interviews were conducted with 9 patients affected by HHT, and the transcripts were analyzed using interpretative phenomenological analysis. The results of this study allowed us to propose a new hypothesis to explain the delay in diagnosis: the trivialization of symptoms associated with HHT. Moreover, the results showed that a genetic diagnosis of HHT results in emotional shock, uncertainty about the future, and worry about one's children in parents who are confronted with the dilemma of facing the reality of the diagnosis or delaying dealing with the diagnosis until disease onset. Family and personal perceptions of the disease influenced not only the delay in diagnosis but also the emotional and behavioral reactions of patients following a genetic diagnosis.
authors: Université Libre de Bruxelles, Campus du Solbosch, CP 122, Avenue Franklin Roosevelt 50, 1050, Bruxelles, Belgium. laura.geerts@ulb.ac.be.|Université de Lille, CNRS, UMR 9193 - SCALab - Sciences Cognitives et Sciences Affectives, F-59000, Lille, France. laura.geerts@ulb.ac.be.
authors: Laura
authors: L
authors: Geerts
authors: Université Libre de Bruxelles, Campus du Solbosch, CP 122, Avenue Franklin Roosevelt 50, 1050, Bruxelles, Belgium.|Université de Lille, CNRS, UMR 9193 - SCALab - Sciences Cognitives et Sciences Affectives, F-59000, Lille, France.
authors: Carole
authors: C
authors: Fantini-Hauwel
authors: Université de Lille, CNRS, UMR 9193 - SCALab - Sciences Cognitives et Sciences Affectives, F-59000, Lille, France.
authors: Elodie
authors: E
authors: Brugallé
authors: Université de Lille, CHU Lille, EA 7364 - RADEME - Maladies RAres du Développement Embryonnaire et du Métabolisme : du Phénotype au Génotype et à la Fonction, F-59000, Lille, France.
authors: Odile
authors: O
authors: Boute
authors: Université de Lille, CHU Lille, EA 7364 - RADEME - Maladies RAres du Développement Embryonnaire et du Métabolisme : du Phénotype au Génotype et à la Fonction, F-59000, Lille, France.
authors: Frédéric
authors: F
authors: Frénois
authors: Université de Lille, CNRS, UMR 9193 - SCALab - Sciences Cognitives et Sciences Affectives, F-59000, Lille, France.
authors: Lydie
authors: L
authors: Defrance
authors: Université de Lille, CHU Lille, EA 7364 - RADEME - Maladies RAres du Développement Embryonnaire et du Métabolisme : du Phénotype au Génotype et à la Fonction, F-59000, Lille, France.
authors: Sylvie
authors: S
authors: Manouvrier-Hanu
authors: Université de Lille, CHU Lille, EA 7364 - RADEME - Maladies RAres du Développement Embryonnaire et du Métabolisme : du Phénotype au Génotype et à la Fonction, F-59000, Lille, France.
authors: Florence
authors: F
authors: Petit
authors: Université de Lille, CNRS, UMR 9193 - SCALab - Sciences Cognitives et Sciences Affectives, F-59000, Lille, France.
authors: Pascal
authors: P
authors: Antoine
mesh_terms: D000328:Adult; D057210:Delayed Diagnosis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D036301:Qualitative Research; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*
keywords: Children transmission; Diagnosis delay; Genetic diagnosis; Hereditary disease; Hereditary hemorrhagic telangiectasia; Psychological consequences