Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
The Major Aspects of Growth in Children (MAGIC) Foundation, Warrenville, IL, USA.
Orphanet J Rare Dis. 2023 Oct 7;18(1):312. doi: 10.1186/s13023-023-02928-7.
Severe primary insulin-like growth factor-I (IGF-I) deficiency (SPIGFD) is a rare growth disorder characterized by short stature (standard deviation score [SDS] ≤ 3.0), low circulating concentrations of IGF-I (SDS ≤ 3.0), and normal or elevated concentrations of growth hormone (GH). Laron syndrome is the best characterized form of SPIGFD, caused by a defect in the GH receptor (GHR) gene. However, awareness of SPIGFD remains low, and individuals living with SPIGFD continue to face challenges associated with diagnosis, treatment and care.
To gather perspectives on the key challenges for individuals and families living with SPIGFD through a multi-stakeholder approach. By highlighting critical gaps in the awareness, diagnosis, and management of SPIGFD, this report aims to provide recommendations to improve care for people affected by SPIGFD globally.
An international group of clinical experts, researchers, and patient and caregiver representatives from the SPIGFD community participated in a virtual, half-day meeting to discuss key unmet needs and opportunities to improve the care of people living with SPIGFD.
As a rare disorder, limited awareness and understanding of SPIGFD amongst healthcare professionals (HCPs) poses significant challenges in the diagnosis and treatment of those affected. Patients often face difficulties associated with receiving a formal diagnosis, delayed treatment initiation and limited access to appropriate therapy. This has a considerable impact on the physical health and quality of life for patients, highlighting a need for more education and clearer guidance for HCPs. Support from patient advocacy groups is valuable in helping patients and their families to find appropriate care. However, there remains a need to better understand the burden that SPIGFD has on individuals beyond height, including the impact on physical, emotional, and social wellbeing.
To address the challenges faced by individuals and families affected by SPIGFD, greater awareness of SPIGFD is needed within the healthcare community, and a consensus on best practice in the care of individuals affected by this condition. Continued efforts are also needed at a global level to challenge existing perceptions around SPIGFD, and identify solutions that promote equitable access to appropriate care. Medical writing support was industry-sponsored.
严重的原发性胰岛素样生长因子-I（IGF-I）缺乏症（SPIGFD）是一种罕见的生长障碍，其特征是身材矮小（标准偏差分数[SDS]≤3.0）、循环中 IGF-I 浓度低（SDS≤3.0）以及生长激素（GH）浓度正常或升高。拉隆综合征是 SPIGFD 的最佳特征形式，由 GH 受体（GHR）基因缺陷引起。然而，对 SPIGFD 的认识仍然很低，患有 SPIGFD 的个体仍然面临与诊断、治疗和护理相关的挑战。
通过多利益相关者的方法，了解患有 SPIGFD 的个体和家庭所面临的主要挑战。本报告通过突出 SPIGFD 在认识、诊断和管理方面的关键差距，旨在为改善全球受 SPIGFD 影响人群的护理提供建议。
一个由国际临床专家、研究人员以及来自 SPIGFD 社区的患者和护理人员代表组成的小组参加了一次虚拟的半天会议，讨论改善 SPIGFD 患者护理的未满足需求和机会。
由于这种疾病较为罕见，医疗保健专业人员（HCPs）对 SPIGFD 的认识和理解有限，这对受影响者的诊断和治疗带来了重大挑战。患者通常面临与获得正式诊断、延迟治疗开始和获得适当治疗机会有限相关的困难。这对患者的身体健康和生活质量产生了相当大的影响，突出了需要为 HCPs 提供更多教育和更明确的指导。患者权益倡导团体的支持对于帮助患者及其家属找到适当的护理非常有价值。然而，仍需要更好地了解 SPIGFD 对个体的影响，除了身高之外，还包括对身体、情感和社会福利的影响。
为了应对受 SPIGFD 影响的个体和家庭所面临的挑战，需要在医疗保健社区中提高对 SPIGFD 的认识，并就这种疾病患者护理的最佳实践达成共识。还需要在全球层面上继续努力，挑战对 SPIGFD 的现有看法，并确定促进公平获得适当护理的解决方案。医学写作支持由行业赞助。
