Abstract
PurposeRare 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.MethodsWe 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.ResultsRare 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.ConclusionsESE 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.
Highlights
The community of European endocrine specialists presents its views on how, based on the science we develop, the clinical work we do and our health-related expectations towards the future, the endocrine discipline can support and contribute to a better health of patients with rare endocrine conditions in Europe
Rare endocrine diseases include inherited disorders, cancer, 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 [3] conditions there are over 440 distinct rare diseases that affect the endocrine system [4]
Summary
Conclusions ESE and ESPE support a strategic plan to address unmet needs in the area of rare endocrine conditions. The community of European endocrine specialists presents its views on how, based on the science we develop, the clinical work we do and our health-related expectations towards the future, the endocrine discipline can support and contribute to a better health of patients with rare endocrine conditions in Europe.
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