Nguyen Yann, Beydon Maxime, Yousfi Karima, Zebiche Samira, Hamroun Dalil, Brassier Anaïs, Pichard Samia, Swiader Laure, Billette de Villemeur Thierry, Héron Bénédicte, Dalbies Florence, Cador Bérengère, Guemann Anne-Sophie, Gaches Francis, Hivert Bénédicte, Leguy-Seguin Vanessa, Masseau Agathe, Deshayes Robin, Pers Yves-Marie, Pettazzoni Magali, Bekri Soumeya, Caillaud Catherine, Le Guillou Edouard, Szymanowski Marie, Astudillo Leonardo, Mauhin Wladimir, Nadjar Yann, Serratrice Christine, Berger Marc G, Camou Fabrice, Belmatoug Nadia, Stirnemann Jérôme
Service de Médecine Interne, Centre de référence des maladies lysosomales, Hôpital Beaujon, AP-HP.Nord, Université Paris Cité, Clichy, France.
Centre de Recherche en Epidémiologie et Statistiques (CRESS), Unité Inserm 1153, Université Paris Cité, Paris, France.
J Inherit Metab Dis. 2025 May;48(3):e70037. doi: 10.1002/jimd.70037.
Gaucher disease (GD) is a rare autosomal-recessive lysosomal disorder caused by glucocerebrosidase deficiency. In this study, we described the epidemiology of GD in France over more than three decades. The French GD registry (FGDR) includes all known patients with GD in France. We described patients' characteristics, and estimated the incidence, prevalence, and standardized mortality ratios of GD. We compared the evolution of diagnostic methods, diagnosis delays, and treatment over time, and assessed the incidence of bone events, malignancies, and Parkinson's disease. Between 1980 and 2024, 706 confirmed GD were included. In 2024, 447 patients were alive (413 type 1, 34 type 3). GD incidence was 0.21/1 000 000 PY, and GD prevalence was 0.61 and 0.05/100 000 inhabitants for type 1 and 3, respectively. The standardized mortality ratio was 0.70 for type 1 GD and 16.23 for type 3 GD. Over time, we observed a decrease in the delay between first symptoms and diagnosis (5.4 years before 2000; 0.8 after 2020; p = 0.001), with enzyme assays becoming the primary diagnostic method, a reduction in splenectomies, and a gradual increase in the use of substrate reduction therapy in type 1 GD. The incidences of bone events, malignancies, and Parkinson's disease were 23, 2.7, and 1.07 per 1000 person-years, respectively. This study provides updated epidemiological data on GD in France, showing improvements in disease knowledge, faster and less invasive diagnoses, and reassuring outcomes for type 1 GD, with lower mortality and a relatively low incidence of malignancies and Parkinson's disease.
戈谢病（GD）是一种罕见的常染色体隐性溶酶体疾病，由葡糖脑苷脂酶缺乏引起。在本研究中，我们描述了法国三十多年来戈谢病的流行病学情况。法国戈谢病登记处（FGDR）纳入了法国所有已知的戈谢病患者。我们描述了患者的特征，并估计了戈谢病的发病率、患病率和标准化死亡率。我们比较了诊断方法、诊断延迟和治疗随时间的演变情况，并评估了骨事件、恶性肿瘤和帕金森病的发病率。1980年至2024年期间，共纳入706例确诊的戈谢病患者。2024年，447例患者存活（413例1型，34例3型）。戈谢病1型和3型的发病率分别为0.21/1000000人年和0.61/100000居民、0.05/100000居民。1型戈谢病的标准化死亡率为0.70，3型戈谢病为16.23。随着时间的推移，我们观察到从首次出现症状到诊断的延迟有所减少（2000年前为5.4年；2020年后为0.8年；p = 0.001），酶测定成为主要诊断方法，脾切除术减少，1型戈谢病中底物减少疗法的使用逐渐增加。骨事件、恶性肿瘤和帕金森病的发病率分别为每1000人年23例、2.7例和1.07例。本研究提供了法国戈谢病的最新流行病学数据，显示出疾病认知的改善、更快且侵入性更小的诊断以及1型戈谢病令人安心的预后，死亡率较低，恶性肿瘤和帕金森病的发病率相对较低。
