Rare diseases, what to do if they affect the endocrine system

Rare diseases, what to do if they affect the endocrine system

February 28 is the day dedicated to rare diseases: what to know and how to behave when they affect the endocrine system

February 28th. Rare Disease Day is celebrated all over the world. It is a key moment for science, which is finding new avenues for the treatment of some of these pathologies, for patients and for families. In general terms, a disease is defined as rare when its prevalence, understood as the number of cases present in a given population, does not exceed an established threshold, 5 cases in 10,000 people. The number of known and diagnosed rare diseases is around 7-8000, but it is a figure that grows with the advancement of science and, in particular, with the progress of genetic research.

20% of the pathologies concern children under the age of 14: they are mainly congenital malformations (45%) and diseases of the endocrine glands, nutrition, metabolism. Precisely on the front of rare endocrine pathologies (over 400 are recognized) there are important news and the confirmation of the value of Italian research.

Warning signs to watch out for

Italy ranks first in Europe for the number of centers of excellence in the treatment of rare endocrine diseases, belonging to the Endocrine European Reference Network (ENDO-ERN), a specialized virtual network of highly complex and competent structures for rare diseases established in 2017 and just expanded, in January 2022. And it ranks first for the number of facilities and also for the representation of patient associations. What is certain is that in many cases these pathologies affect the little ones and that it is essential for them to arrive at an early diagnosis and the consequent taking in charge by the experts.

“Many are congenital and manifest early, often chronic, life-threatening or with serious long-term consequences, and impaired quality of life for patients and their families: early diagnosis is essential for proper therapy, and reducing or prevent long-term complications and improve the quality of life of the child and his family “- remembers Mariacarolina Salerno, president of SIEDP (Italian Society of Pediatric Endocrinology) and director of the Endocrinological Pediatric Unit of the Department of Translational Medical Sciences of the Federico University II of Naples.

To recognize them early we should pay attention, for example, to short stature in childhood, which is often among the main symptoms of rare endocrine diseases: 3% of children have a short stature and although in many cases there are no underlying pathologies, in about the 20% of these children the insufficient growth is due to a rare genetic disease. “Recognizing them is fundamental, because in some cases there are opportunities for treatment: this is the case of growth hormone deficiency, Turner syndrome, SHOX gene defect and Noonan syndrome, for which AIFA approved the therapy in 2021 with growth hormone, or Prader-Willi syndrome, in which early diagnosis and growth hormone therapy improve the prognosis and quality of life of patients – continues the expert “.

Lifelong care

70% of the 2 million Italian rare patients are not yet 18 years old and with about 20,000 new diagnoses every year, the 440 different rare diseases of the endocrine glands, nutrition and metabolism, are in second place for frequency among all rare diseases .

“The discovery of hormones, receptors, feedback, new signal circuits often occurred starting from the study of rare or very rare cases – observes Annamaria Colao, president of SIE (Italian Society of Endocrinology) and director of the Department of Clinical Medicine and Surgery – Unit of Endocrinology of the Federico II University of Naples. Many of these diseases reduce patients’ life expectancy and quality of life; Unfortunately, there are still too many cases of lack of or incorrect diagnosis, lack of adequate treatments, scarce medical attention. To diagnose and treat rare diseases effectively, it is necessary to “network”, collaborate to optimize the management experiences of patients with rare diseases: for this reason the expansion of the network promoted by the European Union ENDO-ERN, in which centers of all 27 participate European countries and patient representative groups, this is excellent news. The collaboration between specialized treatment centers has the main purpose of making knowledge travel, rather than the patient, creating an integrated system of European health care for rare diseases that must always be managed at centers recognized for high qualification “.

Category: Health
Previous Post
3 anti-stress exercises to relax the mind and body
Next Post
Britney, vacation in full freedom (to make up for lost time)
You must be logged in to post a comment.
Menu