Sinha Akshat, Leeson-Beevers Kerry, Lewis Catherine, Loughery Elizabeth, Geberhiwot Tarekegn
Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.
College of Medicine and Health, University of Birmingham, Vincent Drive, Edgbaston, Birmingham, B15 2TT, UK.
Orphanet J Rare Dis. 2025 Jan 6;20(1):5. doi: 10.1186/s13023-024-03509-y.
Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it is important to note that not all the complications associated with AS occur in everyone affected. Symptoms can also present at different stages, making diagnosis difficult. There are currently 88 people diagnosed with AS in the UK.
The aim of this report is to raise awareness of the key symptoms of AS, in order to promote a faster and more effective diagnosis. This involves identification of individual or a combination of 'red flag' symptoms. Overall the findings should improve the patient experience, and their long-term health outcomes.
Between August-October 2022 we conducted research into a sample of patients from the ASUK database. The process involved a combination of interviews with families, social care and education reviews. Interviews were semi-structured using open questions and a patient-centred approach.
Seventeen newly diagnosed patients were included in our sample. Only 24% of patients were diagnosed within one year following the onset of AS symptoms. Patients with visual impairment and cardiomyopathy were diagnosed much more quickly, either in infancy or early childhood. 41% of our research participants waited over 5 years for a diagnosis. Insufficient research and treatment advances can further impede the diagnostic process and limit access to therapies or clinical trials, ultimately impacting patient outcomes.
While we welcome these developments, our findings, and the evidence we have gathered in this report suggests that more needs to be done to improve the experiences of people receiving a diagnosis of AS. Obesity rapidly developing in infancy should be flagged as a key symptom to be aware of where AS is a possible diagnosis. Visual impairment (88%) in combination with cardiomyopathy (59%) is a frequent first presentation for patients with AS. Most patients (7/17) are diagnosed many years after symptom onset (5-20 years).
阿尔斯特伦综合征（AS）是一种隐性遗传疾病，极为罕见且极其复杂。症状包括视网膜营养不良、眼球震颤、畏光、听力丧失、肥胖、胰岛素抵抗、糖尿病和心肌病。病情呈进行性发展，但需要注意的是，并非所有与AS相关的并发症都会出现在每个患者身上。症状也可能在不同阶段出现，这使得诊断变得困难。目前英国有88人被诊断患有AS。
本报告的目的是提高对AS关键症状的认识，以促进更快、更有效的诊断。这涉及识别个体或“警示”症状的组合。总体而言，这些发现应改善患者体验及其长期健康结果。
2022年8月至10月期间，我们对来自英国AS患者数据库的样本进行了研究。该过程包括对家庭的访谈、社会护理和教育评估。访谈采用半结构化形式，使用开放式问题并以患者为中心。
我们的样本包括17名新诊断的患者。只有24%的患者在AS症状出现后一年内被诊断出来。视力障碍和心肌病患者在婴儿期或幼儿期被诊断得更快。41%的研究参与者等待了5年以上才得到诊断。研究和治疗进展不足会进一步阻碍诊断过程，并限制获得治疗或临床试验的机会，最终影响患者的治疗结果。
虽然我们欢迎这些进展，但我们的研究结果以及本报告中收集的证据表明，仍需采取更多措施来改善AS患者的诊断体验。婴儿期迅速发展的肥胖应被标记为可能患有AS时需要注意的关键症状。视力障碍（88%）与心肌病（59%）相结合是AS患者常见的首发症状。大多数患者（7/17）在症状出现多年后（5 - 20年）才被诊断出来。
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