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Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management—Case Report and Literature Review

(1) Background: Genetic hereditary hemorrhagic telangiectasia (HHT) is clinically diagnosed. The clinical manifestations and lack of curative therapeutic interventions may lead to mental illnesses, mainly from the depression–anxiety spectrum. (2) Methods: We report the case of a 69-year-old patient...

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Autores principales: Sârbu, Fabiola, Oprea, Violeta Diana, Tatu, Alin Laurențiu, Polea Drima, Eduard, Bojincă, Violeta Claudia, Romila, Aurelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320563/
https://www.ncbi.nlm.nih.gov/pubmed/35888148
http://dx.doi.org/10.3390/life12071059
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author Sârbu, Fabiola
Oprea, Violeta Diana
Tatu, Alin Laurențiu
Polea Drima, Eduard
Bojincă, Violeta Claudia
Romila, Aurelia
author_facet Sârbu, Fabiola
Oprea, Violeta Diana
Tatu, Alin Laurențiu
Polea Drima, Eduard
Bojincă, Violeta Claudia
Romila, Aurelia
author_sort Sârbu, Fabiola
collection PubMed
description (1) Background: Genetic hereditary hemorrhagic telangiectasia (HHT) is clinically diagnosed. The clinical manifestations and lack of curative therapeutic interventions may lead to mental illnesses, mainly from the depression–anxiety spectrum. (2) Methods: We report the case of a 69-year-old patient diagnosed with HHT and associated psychiatric disorders; a comprehensive literature review was performed based on relevant keywords. (3) Results: Curaçao diagnostic criteria based the HHT diagnosis in our patient case at 63 years old around the surgical interventions for a basal cell carcinoma, after multiple episodes of epistaxis beginning in childhood, but with a long symptom-free period between 20 and 45 years of age. The anxiety–depressive disorder associated with nosocomephobia resulted in a delayed diagnosis and low adherence to medical monitoring. A comprehensive literature review revealed the scarcity of publications analyzing the impact of psychiatric disorders linked to this rare condition, frequently associating behavioral disengagement as a coping strategy, psychological distress, anxiety, depression, and hopelessness. (4) Conclusions: As patients with HHT face traumatic experiences from disease-related causes as well as recurring emergency hospital visits, active monitoring for mental illnesses and psychological support should be considered as part of the initial medical approach and throughout the continuum of care.
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spelling pubmed-93205632022-07-27 Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management—Case Report and Literature Review Sârbu, Fabiola Oprea, Violeta Diana Tatu, Alin Laurențiu Polea Drima, Eduard Bojincă, Violeta Claudia Romila, Aurelia Life (Basel) Case Report (1) Background: Genetic hereditary hemorrhagic telangiectasia (HHT) is clinically diagnosed. The clinical manifestations and lack of curative therapeutic interventions may lead to mental illnesses, mainly from the depression–anxiety spectrum. (2) Methods: We report the case of a 69-year-old patient diagnosed with HHT and associated psychiatric disorders; a comprehensive literature review was performed based on relevant keywords. (3) Results: Curaçao diagnostic criteria based the HHT diagnosis in our patient case at 63 years old around the surgical interventions for a basal cell carcinoma, after multiple episodes of epistaxis beginning in childhood, but with a long symptom-free period between 20 and 45 years of age. The anxiety–depressive disorder associated with nosocomephobia resulted in a delayed diagnosis and low adherence to medical monitoring. A comprehensive literature review revealed the scarcity of publications analyzing the impact of psychiatric disorders linked to this rare condition, frequently associating behavioral disengagement as a coping strategy, psychological distress, anxiety, depression, and hopelessness. (4) Conclusions: As patients with HHT face traumatic experiences from disease-related causes as well as recurring emergency hospital visits, active monitoring for mental illnesses and psychological support should be considered as part of the initial medical approach and throughout the continuum of care. MDPI 2022-07-15 /pmc/articles/PMC9320563/ /pubmed/35888148 http://dx.doi.org/10.3390/life12071059 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Sârbu, Fabiola
Oprea, Violeta Diana
Tatu, Alin Laurențiu
Polea Drima, Eduard
Bojincă, Violeta Claudia
Romila, Aurelia
Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management—Case Report and Literature Review
title Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management—Case Report and Literature Review
title_full Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management—Case Report and Literature Review
title_fullStr Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management—Case Report and Literature Review
title_full_unstemmed Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management—Case Report and Literature Review
title_short Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management—Case Report and Literature Review
title_sort hereditary hemorrhagic telangiectasia associating neuropsychiatric manifestations with a significant impact on disease management—case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320563/
https://www.ncbi.nlm.nih.gov/pubmed/35888148
http://dx.doi.org/10.3390/life12071059
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