Midlands Amyloidosis Service, Centre for Rare Diseases, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Midlands Amyloidosis Service, Centre for Rare Diseases, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Clin Med (Lond). 2024 Jan;24(1):100004. doi: 10.1016/j.clinme.2023.100004. Epub 2024 Jan 19.
There has been an exponential increase in the diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CA). In response, the Midlands Amyloidosis Service was launched with the aim of providing patients with a timely diagnosis, remote expertise from the National Amyloidosis Centre and access to emerging transthyretin (TTR)-directed therapies. This was a descriptive study of a pilot hub-and-spoke model of delivering specialist amyloidosis care. Patients with suspected amyloidosis were referred from the wider Midlands region, and seen in a consultant-led multidisciplinary clinic. The diagnosis of ATTR-CA was established according to either the validated non-biopsy criteria or histological confirmation of ATTR deposits with imaging evidence of amyloid. Study endpoints were the volume of service provision and the time to diagnosis from the receipt of referral. Patients (n=173, age 75±2 years; male 72 %) were referred between 2019 and 2021. Eighty patients (46 %) were found to have cardiac amyloidosis, of whom 68 (85 %) had ATTR-CA. The median time from referral to diagnosis was 43 days. By removing the need for patients to travel to London, an average of 187 patient-miles was saved. Fifteen (9 %) patients with wild-type ATTR-CA received tafamidis under the Early Access to Medicine scheme; 10 (6 %) were enrolled into phase 3 clinical trials of RNA interference or antisense oligonucleotide therapies. Our results suggest that implementing a UK amyloidosis network appears feasible and would enhance equity of access to specialised amyloidosis healthcare for the increasing numbers of older patients found to have ATTR-CA.
淀粉样变性心肌病(ATTR-CA)的诊断呈指数级增长。为此,米德兰兹淀粉样变性服务中心成立,旨在为患者提供及时诊断、国家淀粉样变性中心的远程专业知识以及新兴转甲状腺素(TTR)靶向治疗的机会。这是对提供专业淀粉样变性护理的试点中心辐射式模型的描述性研究。疑似淀粉样变性的患者从更广泛的米德兰兹地区转介,并在顾问领导的多学科诊所就诊。根据经验证的非活检标准或通过影像学证据证实 ATTR 沉积物的组织学诊断,确定 ATTR-CA 的诊断。研究终点是服务提供量和从收到转介到诊断的时间。2019 年至 2021 年期间转介了 173 名患者(年龄 75±2 岁;男性 72%)。80 名(46%)患者被发现患有心脏淀粉样变性,其中 68 名(85%)患有 ATTR-CA。从转介到诊断的中位时间为 43 天。通过消除患者前往伦敦的需求,平均节省了 187 名患者的里程数。根据早期药物获取计划,15 名(9%)野生型 ATTR-CA 患者接受了塔法米迪治疗;10 名(6%)患者被纳入 RNA 干扰或反义寡核苷酸疗法的 3 期临床试验。我们的结果表明,实施英国淀粉样变性网络似乎是可行的,并且可以为越来越多的被诊断为 ATTR-CA 的老年患者提供更公平的获得专业淀粉样变性医疗保健的机会。