Anning Rebecca, Huang Johnson, Ronan Anne, de Malmanche Jillian, Asher Rebecca, Low Tsu-Hui Hubert
Department of Otolaryngology Head and Neck Surgery, John Hunter Hospital, New Lambton, New South Wales, Australia.
General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.
ANZ J Surg. 2022 Mar;92(3):499-504. doi: 10.1111/ans.17322. Epub 2021 Nov 1.
Hereditary haemorrhagic telangiectasia (HHT) is a rare genetic vascular disorder which is characterised by the development of arteriovenous malformations and telangiectasias. A key clinical manifestation is recurrent epistaxis. This study examined the impact of a dedicated HHT clinic in a major Australian tertiary hospital on epistaxis symptoms and subjective quality of life.
A multidisciplinary HHT clinic was established in 2015. All patients satisfied either genetic diagnosis or fulfilled Curacao criteria. A protocol based clinical assessment was performed and a standardised treatment regimen was implemented. Patients completed quality of life and epistaxis severity score (ESS) questionnaires at each review.
Participants of the dedicated clinic included 21 females (58.3%) and 15 males (41.7%), with a mean age of 49.0 ± 24.0 years. The ACVRL1 variant was the most common (n = 20, 55.6%). A statistically significant reduction in epistaxis severity was noted between the baseline and second review (P = 0.02) and was maintained to the third visit (P = 0.015). Patients older than 50 years demonstrate a consistently higher ESS than those less than 50 years old (P = 0.03). This trend is noted throughout the follow up period with the dedicated clinic.
The introduction of a multidisciplinary, dedicated HHT clinic to provide enhanced assessment, monitored treatment regimen and greater access to care, resulted in improvement in the management of epistaxis and quality of life in these patients.
遗传性出血性毛细血管扩张症（HHT）是一种罕见的遗传性血管疾病，其特征是动静脉畸形和毛细血管扩张的发展。一个关键的临床表现是反复鼻出血。本研究调查了澳大利亚一家大型三级医院设立的专门的HHT诊所对鼻出血症状和主观生活质量的影响。
2015年设立了一个多学科的HHT诊所。所有患者均满足基因诊断标准或符合库拉索标准。进行了基于方案的临床评估，并实施了标准化治疗方案。患者在每次复诊时完成生活质量和鼻出血严重程度评分（ESS）问卷。
专门诊所的参与者包括21名女性（58.3%）和15名男性（41.7%），平均年龄为49.0±24.0岁。ACVRL1变异是最常见的（n = 20，55.6%）。在基线和第二次复诊之间，鼻出血严重程度有统计学意义的降低（P = 0.02），并持续到第三次就诊（P = 0.015）。50岁以上的患者ESS始终高于50岁以下的患者（P = 0.03）。在专门诊所的整个随访期间都注意到了这种趋势。
引入多学科的专门HHT诊所，以提供强化评估、监测治疗方案和更多的就医机会，使这些患者的鼻出血管理和生活质量得到改善。
