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遗传性出血性毛细血管扩张症合并神经精神表现对疾病管理有重大影响——病例报告及文献综述

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

作者信息

Sârbu Fabiola, Oprea Violeta Diana, Tatu Alin Laurențiu, Polea Drima Eduard, Bojincă Violeta Claudia, Romila Aurelia

机构信息

Medical Department, Faculty of Medicine and Pharmacy, "Dunărea de Jos" University of Galati, 800216 Galati, Romania.

"Elisabeta Doamna" Psychiatric Hospital, 800179 Galati, Romania.

出版信息

Life (Basel). 2022 Jul 15;12(7):1059. doi: 10.3390/life12071059.

Abstract

(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.

摘要

(1) 背景:遗传性出血性毛细血管扩张症(HHT)通过临床诊断。其临床表现以及缺乏有效的治疗干预措施可能导致精神疾病,主要来自抑郁 - 焦虑谱系。(2) 方法:我们报告了一例69岁诊断为HHT及相关精神障碍的患者;基于相关关键词进行了全面的文献综述。(3) 结果:在我们的患者病例中,根据库拉索诊断标准,该患者在63岁时因基底细胞癌接受手术干预后被诊断为HHT,患者自童年起就有多次鼻出血发作,但在20至45岁之间有较长的无症状期。与医院恐惧症相关的焦虑 - 抑郁障碍导致诊断延迟和对医疗监测的低依从性。全面的文献综述显示,分析与这种罕见疾病相关的精神障碍影响的出版物稀缺,常将行为脱离作为应对策略、心理困扰、焦虑、抑郁和绝望联系起来。(4) 结论:由于HHT患者面临与疾病相关原因导致的创伤经历以及反复的急诊就医,对精神疾病的积极监测和心理支持应被视为初始医疗方法的一部分,并贯穿整个护理过程。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6089/9320563/cbd48513f8c4/life-12-01059-g001.jpg

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