Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization.
Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization.
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DOI：
10.1186/s13023-021-01983-2
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发表时间：
2021-08-05
影响因子：
3.7
通讯作者：
Kaplan FS
中科院分区：
文献类型：
--
作者：
Pignolo RJ;Hsiao EC;Baujat G;Lapidus D;Sherman A;Kaplan FS
进行性骨化纤维发育不良（FOP）是一种罕见的、进行性的、永久致残的骨骼外骨化疾病，其特征是间歇性和疼痛性发作，以及肌肉、肌腱和韧带的不可逆异位骨化。由于FOP的罕见性和疾病表现的异质性，患病率估计一直受到阻碍。本研究旨在提供美国FOP的基线患病率，基于与3个领先的FOP治疗中心之一（宾夕法尼亚大学、梅奥诊所或加州大学旧金山分校）、国际骨化性纤维发育不良进展协会（IFOPA）会员名单或IFOPA FOP登记处的联系，截止2020年7月22日。对患者的病历进行审查、收集，并使用姓名首字母、性别、州和出生年份进行重复删除。对每个患者应用Kaplan-Meier生存曲线来估计他或她仍然活着的概率，并计算概率加权净患病率估计值。在重复数据删除后，在美国确定了373名独特的患者，其中294人没有在任何名单中被列为死者。284例患者离最后一次接触的平均时间为1.5年。根据生存概率的应用，估计这些患者中有279人在流行日（2020年7月22日）存活。根据平均生存率估计为98.4%或保守生存率估计为92.3%（基于先前研究的Kaplan-Meier生存曲线）和美国2020年人口普查估计的流行日329,992,681例，计算出每百万美国居民的调整患病率为0.88例。这项研究表明，FOP的患病率高于常被引用的0.5 / 100万。即便如此，由于纳入本研究取决于作者的治疗，IFOPA会员资格和FOP登记，美国的FOP患病率可能高于本文所确定的。因此，必须努力识别并为患有这种极其罕见、严重使人衰弱的疾病的患者提供专家护理。
Fibrodysplasia ossificans progressiva (FOP), an ultra-rare, progressive, and permanently disabling disorder of extraskeletal ossification, is characterized by episodic and painful flare-ups and irreversible heterotopic ossification in muscles, tendons, and ligaments. Prevalence estimates have been hindered by the rarity of FOP and the heterogeneity of disease presentation. This study aimed to provide a baseline prevalence of FOP in the United States, based on contact with one of 3 leading treatment centers for FOP (University of Pennsylvania, Mayo Clinic, or University of California San Francisco), the International Fibrodysplasia Ossificans Progressiva Association (IFOPA) membership list, or the IFOPA FOP Registry through July 22, 2020. Patient records were reviewed, collected, and deduplicated using first and last name initials, sex, state, and year of birth. A Kaplan–Meier survival curve was applied to each individual patient to estimate the probability that he or she was still alive, and a probability-weighted net prevalence estimate was calculated. After deduplication, 373 unique patients were identified in the United States, 294 of whom who were not listed as deceased in any list. The average time since last contact for 284 patients was 1.5 years. Based on the application of the survival probability, it is estimated that 279 of these patients were alive on the prevalence date (22 July 2020). An adjusted prevalence of 0.88 per million US residents was calculated using either an average survival rate estimate of 98.4% or a conservative survival rate estimate of 92.3% (based on the Kaplan–Meier survival curve from a previous study) and the US Census 2020 estimate of 329,992,681 on prevalence day. This study suggests that the prevalence of FOP is higher than the often-cited value of 0.5 per million. Even so, because inclusion in this study was contingent upon treatment by the authors, IFOPA membership with confirmed clinical diagnosis, and the FOP Registry, the prevalence of FOP in the US may be higher than that identified here. Thus, it is imperative that efforts be made to identify and provide expert care for patients with this ultra-rare, significantly debilitating disease.
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DOI：
10.1007/s11832-015-0704-6
发表时间：
2015-12
期刊：
Journal of children's orthopaedics
影响因子：
--
作者：
Ortiz-Agapito F;Colmenares-Bonilla D
通讯作者：
Colmenares-Bonilla D
影响因子：
3.7
作者：
Pignolo RJ;Shore EM;Kaplan FS
通讯作者：
Kaplan FS
影响因子：
3.7
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
通讯作者：
Cormier-Daire V
影响因子：
8
作者：
Kaplan, Frederick S.;Xu, Meiqi;Shore, Eileen M.
通讯作者：
Shore, Eileen M.
影响因子：
12.7
作者：
Rahman, Md Shaifur;Akhtar, Naznin;Jamil, Hossen Mohammad;Banik, Rajat Suvra;Asaduzzaman, Sikder M.
通讯作者：
Asaduzzaman, Sikder M.