Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases.
Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases.
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DOI：
10.1186/s13023-017-0674-5
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发表时间：
2017-06-30
影响因子：
3.7
通讯作者：
Cormier-Daire V
中科院分区：
文献类型：
--
作者：
Baujat G;Choquet R;Bouée S;Jeanbat V;Courouve L;Ruel A;Michot C;Le Quan Sang KH;Lapidus D;Messiaen C;Landais P;Cormier-Daire V
进行性骨化性纤维发育不良 (FOP) 是一种罕见的、严重致残且缩短寿命的遗传性疾病，会导致软结缔组织内形成异位骨。此前的研究发现，FOP 患病率约为每 200 万人中就有 1 人。本研究的目的是通过 2 个国家数据库的概率记录链接来估计法国的 FOP 患病率：1) PMSI（信息系统医疗计划），一个记录法国所有住院活动的管理数据库；2) CEMARA，一个由法国罕见疾病参考中心开发的登记数据库。使用捕获-再捕获方法来调整两个数据源中确定的患者粗略数量，确定了 89 名 FOP 患者，导致患病率为每百万居民 1.36 例 (CI95% = [1.10; 1.68])。 FOP患者的平均年龄为25岁，只有14.9%的人年龄在40岁以上，其中53%是男性。其中 97.3% 的首批症状（除了脚趾畸形）出现在出生后。发现症状时的平均年龄为 7 岁，只有 6.9% 的患者年龄在 18 岁以上。诊断时的平均年龄为 10 岁，其中 14.9% 的患者年龄在 18 岁以上。 FOP 患者分布在法国各地。尽管确定患有罕见疾病的患者存在挑战，但我们报告法国 FOP 的患病率比其他地方之前的研究要高得多。我们建议在国家和欧洲层面加强和扩大 FOP 患者识别和确诊的工作。
Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, and life-shortening genetic disorder that causes the formation of heterotopic bone within soft connective tissue. Previous studies found that the FOP prevalence was about one in every two million lives. The aim of this study is to estimate the FOP prevalence in France by probabilistic record-linkage of 2 national databases: 1) the PMSI (Programme de médicalisation des systèmes d’information), an administrative database that records all hospitalization activities in France and 2) CEMARA, a registry database developed by the French Centres of Reference for Rare Diseases. Using a capture-recapture methodology to adjust the crude number of patients identified in both data sources, 89 FOP patients were identified, which results in a prevalence of 1.36 per million inhabitants (CI95% = [1.10; 1.68]). FOP patients’ mean age was 25 years, only 14.9% were above 40 years, and 53% of them were males. The first symptoms – beside toe malformations- occurred after birth for 97.3% of them. Mean age at identified symptoms was 7 years and above 18 years for only 6.9% of patients. Mean age at diagnosis was 10 years, and above 18 years for 14.9% of the patients. FOP patients were distributed across France. Despite the challenge of ascertaining patients with rare diseases, we report a much higher prevalence of FOP in France than in previous studies elsewhere. We suggest that efforts to identify patients and confirm the diagnosis of FOP should be reinforced and extended at both national and European level.