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  • Title: Perspectives of the European Society of Endocrinology (ESE) and the European Society of Paediatric Endocrinology (ESPE) on rare endocrine disease.
    Author: Reincke M, Hokken-Koelega A.
    Journal: Endocrine; 2021 Mar; 71(3):539-541. PubMed ID: 33740222.
    Abstract:
    PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
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