在欧洲罕见内分泌和骨骼疾病登记处开发标准数据集——骨肥大症数据集。

Developing a standard dataset in the European registries for rare endocrine and bone conditions-a Melorheostosis dataset.

作者信息

Appelman-Dijkstra Natasha M, Cherenko Mariya, Clunie Gavin P R, Funck-Brentano Thomas, Grasemann Corinna, Raimann Adalbert, Lems Willem F, Cohen-Solal Martine

机构信息

Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Albinusdreef 2, Postbox 9600, 2300 RC, Leiden, The Netherlands.

Metabolic Bone Physician, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

出版信息

Orphanet J Rare Dis. 2025 Jul 1;20(1):331. doi: 10.1186/s13023-025-03862-6.

DOI:10.1186/s13023-025-03862-6

PMID:40598201

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12219589/

Abstract

BACKGROUND

Melorheostosis is a rare skeletal and connective tissue disorder with the estimated prevalence of 1/1,100,000. Low prevalence of rare diseases (RDs) can lead to suboptimal knowledge and expertise among clinicians.

METHODS

The European Registries for Rare Endocrine and Bone Conditions (EuRREB) facilitates collection of a set of Core Data Elements and a specific dataset within the 'condition specific module' of the Core Registry platform. The Rare Bone Disease Action Group of the European Calcified Tissue Society (ECTS) collaborated with ERN BOND to develop a specific dataset for Melorheostosis.

RESULTS

An initial dataset was shortened to 44 unique variables. In January 2023, the Melorheostosis condition specific module was published and now consists of 18 patients from 2 countries. The median age of patients was 49 years old (range 23-82) and female to male ratio was 15:3 (83.3%). Family history of Melorheostosis was negative for all patients. The most affected bones were lower limbs in 12 cases (66.7%). Specifically, spine, feet and ribs were involved each in 2 cases (11%), skull and pelvis-in one patient each (5.5%). Two patients (11%) suffered from more than 1 lesion. Hyperostosis was present in 3 patients (16.7%), skeletal deformity-in 6 (33%), joint stiffness - in 11 (61%), asymmetry-in 16 (88.9%), joint limitation-in 12 (66.7%) patients. Swelling and muscle atrophy were reported in 1 case each (5.5%), vascular abnormalities-in 2 cases (11%), skin abnormality in 1 case (5.5%). Pain was present in 14 from 18 patients (77.8%). Genetic testing was performed in 5 patients (27.7%).

CONCLUSION

A condition specific module, for Melorheostosis, within an established registry has been developed. This will serve a useful resource to inform clinicians about this rare disease, and can support several healthcare initiatives such as guidelines creation and healthcare improvement strategies.

摘要

背景

肢骨纹状肥大是一种罕见的骨骼和结缔组织疾病，估计患病率为1/1,100,000。罕见病（RDs）的低患病率可能导致临床医生的相关知识和专业技能不足。

方法

欧洲罕见内分泌和骨骼疾病注册中心（EuRREB）促进在核心注册平台的“特定疾病模块”中收集一组核心数据元素和特定数据集。欧洲钙化组织协会（ECTS）的罕见骨病行动小组与ERN BOND合作，为肢骨纹状肥大开发了一个特定数据集。

结果

最初的数据集被精简为44个独特变量。2023年1月，肢骨纹状肥大特定疾病模块发布，目前包含来自2个国家的18名患者。患者的中位年龄为49岁（范围23 - 82岁），男女比例为15:3（83.3%）。所有患者的肢骨纹状肥大家族史均为阴性。最常受累的骨骼是下肢，有12例（66.7%）。具体而言，脊柱、足部和肋骨各有2例（11%）受累，颅骨和骨盆各有1例患者受累（5.5%）。2例患者（11%）有多处病变。3例患者（16.7%）出现骨质增生，6例（33%）出现骨骼畸形，11例（61%）出现关节僵硬，16例（88.9%）出现不对称，12例（66.7%）出现关节活动受限。各有1例（5.5%）报告有肿胀和肌肉萎缩，2例（11%）有血管异常，1例（5.5%）有皮肤异常。18例患者中有14例（77.8%）存在疼痛。5例患者（27.7%）进行了基因检测。