Department of Clinical Genetics, Centre of Reference for Constitutional Bone Diseases (MOC), INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris Centre University, Paris, France.
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
Orphanet J Rare Dis. 2022 Jul 27;17(1):293. doi: 10.1186/s13023-022-02442-2.
Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary team expert in the condition The European Achondroplasia Forum guiding principles of management highlight the importance of accurate diagnosis and timely referral to a centre specialised in the management of achondroplasia to fully support individuals with achondroplasia and their families, and to appropriately plan management. The European Achondroplasia Forum undertook an exploratory audit of its Steering Committee to ascertain the current situation in Europe and to understand the potential barriers to timely diagnosis and referral.
Diagnosis of achondroplasia was primarily confirmed prenatally (66.6%), at Day 0 (12.8%) or within one month after birth (12.8%). For suspected and confirmed cases of achondroplasia, a greater proportion were identified earlier in the prenatal period (87.1%) with fewer diagnoses at Day 0 (5.1%) or within the first month of life (2.6%). Referral to a specialist centre took place after birth (86.6%), predominantly within the first month, although there was a wide variety in the timepoint of referral between countries and in the time lapsed between suspicion or confirmed diagnosis of achondroplasia and referral to a specialist centre.
The European Achondroplasia Forum guiding principles of management recommend diagnosis of achondroplasia as early as possible. If concerns are raised at routine ultrasound, second line investigation should be implemented so that the diagnosis can be reached as soon as possible for ongoing management. Clinical and radiological examination supported by molecular testing is the most effective way to confirm diagnosis of achondroplasia after birth. Referral to a centre specialised in achondroplasia care should be made as soon as possible on suspicion or confirmation of diagnosis. In countries or regions where there are no official skeletal dysplasia reference or specialist centres, priority should be given to their creation or recognition, together with incentives to improve the structure of the existing multidisciplinary team managing achondroplasia. The length of delay between diagnosis of achondroplasia and referral to a specialist centre warrants further research.
成骨不全症是最常见的骨骼发育不良形式，从婴儿早期到成年期可能会出现严重的合并症和并发症，需要由多学科团队的专家进行终身管理，该团队对这种疾病有深入了解。欧洲成骨不全症论坛的管理指导原则强调了准确诊断和及时转介到专门管理成骨不全症的中心的重要性，以便充分支持成骨不全症患者及其家属，并适当规划管理。欧洲成骨不全症论坛对其指导委员会进行了探索性审计，以了解欧洲的现状，并了解及时诊断和转介的潜在障碍。
成骨不全症的诊断主要是在产前（66.6%）、出生后第 0 天（12.8%）或出生后一个月内（12.8%）确认。对于疑似和成骨不全症确诊病例，更多病例是在产前更早地被发现（87.1%），在出生后第 0 天（5.1%）或出生后第一个月内（2.6%）的确诊病例较少。向专门中心的转介发生在出生后（86.6%），主要在第一个月内，但各国之间的转介时间点以及从疑似或确诊成骨不全症到向专门中心转介的时间间隔存在很大差异。
欧洲成骨不全症论坛的管理指导原则建议尽早诊断成骨不全症。如果在常规超声检查中发现问题，应进行二线检查，以便尽快得出诊断，进行持续管理。出生后，临床和放射学检查辅以分子检测是确诊成骨不全症最有效的方法。一旦怀疑或确诊，应尽快向专门的成骨不全症护理中心转介。在没有官方骨骼发育不良参考或专门中心的国家或地区，应优先考虑创建或认可这些中心，并激励改善管理成骨不全症的现有多学科团队的结构。从诊断到向专门中心转介的时间延迟需要进一步研究。
