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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MDPI AG
2022-07-01
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| Online Access: | https://www.mdpi.com/2075-1729/12/7/1059 |
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| author | Fabiola Sârbu Violeta Diana Oprea Alin Laurențiu Tatu Eduard Polea Drima Violeta Claudia Bojincă Aurelia Romila |
| author_facet | Fabiola Sârbu Violeta Diana Oprea Alin Laurențiu Tatu Eduard Polea Drima Violeta Claudia Bojincă Aurelia Romila |
| author_sort | Fabiola Sârbu |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-09T10:16:40Z |
| format | Article |
| id | doaj.art-ba8cb07b3b4143b3897ff93007a88770 |
| institution | Directory Open Access Journal |
| issn | 2075-1729 |
| language | English |
| last_indexed | 2024-03-09T10:16:40Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Life |
| spelling | doaj.art-ba8cb07b3b4143b3897ff93007a887702023-12-01T22:21:59ZengMDPI AGLife2075-17292022-07-01127105910.3390/life12071059Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management—Case Report and Literature ReviewFabiola Sârbu0Violeta Diana Oprea1Alin Laurențiu Tatu2Eduard Polea Drima3Violeta Claudia Bojincă4Aurelia Romila5Medical Department, Faculty of Medicine and Pharmacy, “Dunărea de Jos” University of Galati, 800216 Galati, RomaniaMedical Department, Faculty of Medicine and Pharmacy, “Dunărea de Jos” University of Galati, 800216 Galati, RomaniaClinical, Medical Department, Dermatology, ReForm UDJ, Faculty of Medicine and Pharmacy, “Dunărea de Jos” University of Galati, 800216 Galati, RomaniaMedical Department, Faculty of Medicine and Pharmacy, “Dunărea de Jos” University of Galati, 800216 Galati, RomaniaInternal Medicine Department, Faculty of Medicine, “Carol Davila” University of Medicine and Pharmacy in Bucharest, 020021 Bucharest, RomaniaMedical Department, Faculty of Medicine and Pharmacy, “Dunărea de Jos” University of Galati, 800216 Galati, Romania(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.https://www.mdpi.com/2075-1729/12/7/1059hereditary hemorrhagic telangiectasiaRendu–Osler–Weber syndromearteriovenous malformationsepistaxismental illnessneuropsychiatric |
| spellingShingle | Fabiola Sârbu Violeta Diana Oprea Alin Laurențiu Tatu Eduard Polea Drima Violeta Claudia Bojincă Aurelia Romila Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management—Case Report and Literature Review Life hereditary hemorrhagic telangiectasia Rendu–Osler–Weber syndrome arteriovenous malformations epistaxis mental illness neuropsychiatric |
| 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 | hereditary hemorrhagic telangiectasia Rendu–Osler–Weber syndrome arteriovenous malformations epistaxis mental illness neuropsychiatric |
| url | https://www.mdpi.com/2075-1729/12/7/1059 |
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