Moio Maria-Rita, Milke Julia Cordeiro, Moutapam-Ngamby-Adriaansen Yannick, Alberti Arthur Minas, Gernay Marie, Schütz Eduardo, Schwartz Ida Vanessa Doederlein, Maillot François
Department of Internal Medicine, University Hospital of Tours, Tours, France.
Medicine School, Federal University of Rio Grande Do Sul, Porto Alegre, Brazil.
J Inherit Metab Dis. 2025 May;48(3):e70038. doi: 10.1002/jimd.70038.
Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients. Delayed diagnosis, particularly in older patients, may reflect the diagnostic odyssey usually observed in rare diseases' patients and can result in complications and reduced quality of life for patients and their families. The aim of the study was to better characterize the diagnosis of IMDs in older patients (≥ 65 years). We conducted a systematic literature review (SLR) to examine the diagnosis and clinical presentation of IMDs in patients aged 65 and older. We searched databases like PubMed, Embase, and Lilacs for relevant studies from 1965 to 2023. A total of 260 articles were included, representing 293 patients with a median age of 69 years at diagnosis. From this SLR, 67 different diagnoses have been reported. The most frequently reported diseases were Fabry disease, alkaptonuria, Gaucher disease, mitochondrial disorders, and glycogen storage disease type V. Median diagnostic delay was 14.5 years with a wide range of 1-91 years. Musculoskeletal symptoms were the most frequently reported, followed by neurological and cardiovascular symptoms. Our findings underscore the importance of recognizing IMDs in older patients and the need for awareness among healthcare providers to improve diagnosis and patient care. Future guidelines and teaching programs should incorporate metabolic investigations for older patients presenting with symptoms suggestive of IMDs.
遗传性代谢疾病（IMDs）是由于编码酶或转运蛋白的基因发生致病变异而导致人体生化过程紊乱的遗传性疾病。虽然IMDs大多在婴儿期或儿童期被诊断出来，但成年患者的诊断数量也在不断增加。延迟诊断，尤其是在老年患者中，可能反映了罕见病患者通常经历的漫长诊断过程，并可能导致并发症，降低患者及其家人的生活质量。本研究的目的是更好地描述老年患者（≥65岁）IMDs的诊断情况。我们进行了一项系统文献综述（SLR），以研究65岁及以上患者IMDs的诊断和临床表现。我们在PubMed、Embase和Lilacs等数据库中搜索了1965年至2023年的相关研究。共纳入260篇文章，代表293例患者，诊断时的中位年龄为69岁。从这项SLR中，已报告了67种不同的诊断。报告最频繁的疾病是法布里病、尿黑酸尿症、戈谢病、线粒体疾病和V型糖原贮积病。中位诊断延迟为14.5年，范围广泛，为1至91年。肌肉骨骼症状报告最为频繁，其次是神经和心血管症状。我们的研究结果强调了在老年患者中识别IMDs的重要性，以及医疗保健提供者提高认识以改善诊断和患者护理的必要性。未来的指南和教学计划应纳入对出现提示IMDs症状的老年患者的代谢检查。
