President-elect, European Society of Endocrinology, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, LMU München, München, Germany.
Secretary General, European Society for Paediatric Endocrinology (ESPE), Erasmus University Medical Center, Rotterdam, The Netherlands.
Endocrine. 2021 Mar;71(3):539-541. doi: 10.1007/s12020-021-02652-x. Epub 2021 Mar 19.
Rare diseases affect <1 in 2000 people. Despite their rarity, they collectively affect ~30 million people across Europe. The aim of this article is to present the view of our European endocrine societies on the care of patients with rare endocrine conditions.
We evaluated the current situation of patients with rare endocrine disease and present the joint views of the European Society for Endocrinology (ESE) and the European Society for Pediatric Endocrinology (ESPE) on how the endocrine disciplines can support and contribute to a better health of patients with rare endocrine conditions in Europe.
Rare diseases pose many challenges, including early diagnosis and innovative treatment options. Rare endocrine diseases can be found among inherited disorders, cancers, and conditions associated with metabolic disorders such as diabetes, calcium and bone metabolism, lipid metabolism, hypogonadism, and adrenal, pituitary, and thyroid dysfunction. According to the European Registries for Rare Endocrine conditions, there are over 440 distinct rare diseases that affect the endocrine system. Rare endocrine diseases are often chronic and life-threatening.
ESE and ESPE support a strategic plan to address unmet needs in the area of rare endocrine conditions. The EU should continue to evolve and expand its plans for funding European Reference Networks so that they can expand their activities.
罕见病影响每 2000 人中不到 1 人。尽管它们很罕见，但在欧洲，它们总共影响了约 3000 万人。本文的目的是展示我们欧洲内分泌学会对罕见内分泌疾病患者护理的看法。
我们评估了罕见内分泌疾病患者的现状，并提出了欧洲内分泌学会（ESE）和欧洲儿科内分泌学会（ESPE）的联合观点，即内分泌学科如何支持和促进欧洲罕见内分泌疾病患者的健康。
罕见疾病带来了许多挑战，包括早期诊断和创新治疗方案。罕见的内分泌疾病可以在遗传性疾病、癌症以及与代谢紊乱相关的疾病中找到，如糖尿病、钙和骨代谢、脂质代谢、性腺功能减退症以及肾上腺、垂体和甲状腺功能障碍。根据欧洲罕见内分泌疾病登记处的数据，有超过 440 种不同的罕见疾病会影响内分泌系统。罕见的内分泌疾病通常是慢性的且危及生命的。
ESE 和 ESPE 支持一项战略计划，以解决罕见内分泌疾病领域的未满足需求。欧盟应继续发展和扩大其为欧洲参考网络提供资金的计划，以便它们能够扩大活动。
