Unverricht-Lundborg 病（EPM1）患者的合并症。
Comorbidities in patients with Unverricht-Lundborg disease (EPM1).
机构信息
Department of Neurology, Siun Sote North Karelia Central Hospital, Joensuu, Finland and Clinical Neurosciences, University of Turku, Turku, Finland.
Epilepsy Center, Neuro Center, Kuopio University Hospital, Kuopio, Finland, Member of the European Reference Network for Rare and Complex Epilepsies EpiCARE; Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
出版信息
Acta Neurol Scand. 2022 Nov;146(5):690-693. doi: 10.1111/ane.13706. Epub 2022 Sep 13.
BACKGROUND
Unverricht-Lundborg disease (EPM1) typically leads to accumulating disability. Disability may also be caused by comorbidities but there are no data available on these.
AIMS OF THE STUDY
To investigate the frequency of comorbidities in EPM1.
METHODS
Comorbidity data of a previously described cohort of 135 Finnish patients with EPM1 were retrieved from neurological, surgical (including subspecialities), internal medicine (including subspecialities) and intensive care patient charts of the treating hospitals.
RESULTS
Mean follow-up time was 31.4 years (SD 12.4 years, range 6.8-57.8 years), during which at least one comorbidity was observed in 107 patients (79%) and three or more in 53 (39%). The most common diagnostic categories were external injuries, mental and behavioural disorders and endocrine, nutritional and metabolic diseases. The most common single comorbid diagnosis was a fracture of the ankle (in 19% of all patients). The second most common single comorbid diagnosis in the cohort was diabetes (in 13% of all patients), and the third was depression, recorded for 13% of the cohort. Malignancies and cardiovascular end-organ damage were rare, whereas phimosis/paraphimosis appeared more common than in general population.
CONCLUSIONS
Patients with EPM1 often have comorbidities. Trauma and mental health risks should be especially followed and acted upon. Further studies are needed to more accurately comorbidity risks, characteristics and patient needs.
背景
Unverricht-Lundborg 病（EPM1）通常导致残疾逐渐积累。残疾也可能由共病引起，但目前尚无这些疾病的数据。
目的
研究 EPM1 共病的频率。
方法
从治疗医院的神经科、外科（包括亚专科）、内科（包括亚专科）和重症监护患者病历中检索到之前描述的 135 名芬兰 EPM1 患者队列的共病数据。
结果
平均随访时间为 31.4 年（标准差 12.4 年，范围 6.8-57.8 年），在此期间，107 名患者（79%）至少观察到一种共病，53 名患者（39%）观察到三种或更多共病。最常见的诊断类别是外伤、精神和行为障碍以及内分泌、营养和代谢疾病。最常见的单一共病诊断是踝关节骨折（所有患者的 19%）。队列中第二常见的单一共病诊断是糖尿病（所有患者的 13%），第三是抑郁症，记录在 13%的患者中。恶性肿瘤和心血管终末器官损害很少见，而包茎/包皮过长似乎比一般人群更常见。
结论
EPM1 患者常伴有共病。应特别注意并处理创伤和精神健康风险。需要进一步研究以更准确地评估共病风险、特征和患者需求。
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