Acromegaly and Cushing’s syndrome They are two rare endocrine diseases that you probably haven’t heard of. That is precisely the problem that, given its anomaly and because its manifestations are common to other pathologies, between 5 and 10 years can pass from the moment the first symptoms begin until the diagnosis occurs.
In addition to facial changes, joint pain, headaches and intense fatigue are three of the main signs of acromegalya rare endocrine disease in which a benign tumor squeezes the pituitary gland and triggers the production of growth hormone. For its part, obesity in the upper part of the body, severe fatigue and muscle weakness are some of the ways in which Cushing’s syndrome. It is often confused with “getting fat,” but it is a hormonal disorder caused by prolonged exposure to excess cortisol.
About both diseases was the III Edition of EndoInnova, the annual scientific meeting organized by Recordati Rare Diseases, which this year was held on June 7, in Madrid. The event brought together nearly a hundred specialists from Spain and Portugal to learn about the latest therapeutic alternatives in the treatment of these two rare neuroendocrine diseases, Acromegaly and Cushing’s syndrome.
Cushing syndrome: stress, depression and even suicide
Excess cortisol can have devastating effects, as explained Marina Arias, 35-year-old nursing professional, who recounted his personal experience. Arias shared with attendees the impact of Cushing’s syndrome in your life, including significant weight gain and severe emotional changes.
«At the moment when they gave me the name of the disease I was a little more relaxed, but throughout that journey I was scared because I didn’t know if I had a tumor, a cancer. We are more irritable, everything seems like a world to you, there are times when you don’t even feel like getting out of bed, you even go as far as not recognizing yourself in the mirror, because I gained 20 kilos in just under two months.
The Dr. Rocío Villar Taibo of the Endocrinology and Nutrition service of the University Hospital Complex of Santiago de Compostela, provided alarming information about the incidence of suicide attempts in patients with Cushing’s syndrome due to excess cortisol: “Cushing’s and suicide may have an important relationship.”
He shared a real case treated in his consultation, illustrating the severity of the psychological consequences of this disease and concluded by saying that “it is important to keep in mind that active hypercortisolism, particularly in the first year after the diagnosis of Cushing’s syndrome, is associated with increased mortality from cardiovascular, infectious, and also psychiatric causes. “Some studies indicate that up to 2.2% of deaths in patients with this disease are attributed to suicide.”
A stressful journey to diagnosis
The Dr. Marta Araujofrom the Ramón y Cajal University Hospital in Madrid, presented during this day the news published in studies on Cushing’s syndrome carried out in real life, as well as a comparative study on the efficacy and safety of two therapeutic options, presented at the European Congress of Endocrinology, held last May in Stockholm.
The doctor also reviewed the few therapeutic options availableand particularly a molecule supported by solid prospective clinical evidence, which has shown that “85% of patients showed an improvement in at least one physical characteristic of the disease at week 48, such as hirsutism in women, abdominal obesity and dorsal and supraclavicular fat deposits. This treatment is rapid and more effective than others in normalizing cortisol levels in patients with Cushing’s syndrome and also improves associated comorbidities, symptoms and health-related quality of life.
Acromegaly: A multidisciplinary challenge
During the event, Almudena Martin, secretary of the Spanish Association of People Affected by Acromegaly and diagnosed at the age of 26, presented in virtual format the results of a survey carried out on 56 Spanish patients, as an initiative of the entity. She highlighted that the 72% of those surveyed took between 5 and more than 10 years to receive the diagnosis from the first manifestations of the disease.
The most bothersome symptoms for daily life were “the muscle and joint pain, headache, facial changesemotional ups and downs, memory deficits and reduced sexual desire, which continue to significantly affect quality of life.
Martín emphasized the need for a multidisciplinary approach, since the complexity of acromegaly forces patients to consult multiple specialistsincluding endocrinologists, cardiologists, ophthalmologists, physiotherapists, osteopaths, traumatologists, gynecologists and urologists.
«We are facing a little-known disease, and although we deeply appreciate the efforts of doctors to control the size of the tumor and hormonal levels, they also we need other symptoms to be addressed and treated to improve our quality of life,” he added.
Current therapeutic options
For its part, the Dr. Betina BiagettiCoordinator of the Pituitary Tumors Unit of the Endocrinology and Nutrition Service of the Vall d’Hebron University Hospital in Barcelona, highlighted “the importance of adequate control of acromegaly to reduce mortality” and noted that “practically half of our patients do not respond to treatment with first-generation somatostatin analogues.
During the event, Dr. Biagetti showed the results of 6 recent studies published in prestigious scientific journals, which demonstrate real-life clinical evidence of a second generation therapeutic option, effective in biochemical control and reduction of tumor volume in patients with acromegaly. He emphasized the importance of gaining time in controlling the disease: “Real-life cases allow us to know which molecule will work best in each patient and select it appropriately.”
One of the studies, carried out with 50 patients and recently published in Journal of Endocrinological Investigation, show that 70% of the patients achieved biochemical control at the last study visit. Rapid improvement or resolution of headaches was also observed in 64% of patients, with early control of intractable headaches, which are often disabling in these patients. Others characteristic symptoms of acromegaly, such as fatigue, pain osteoarticular problems or excessive sweating also improved significantly, favorably impacting their quality of life.
Finally, Dr. Juan Vila, general director of Recordati Rare Diseases, Spain and Portugal, confirms that collaboration between patient associations, doctors and the pharmaceutical industry is crucial to face the challenges presented by these complex diseases. «We focus on the few, on those affected by minority pathologies because We believe that every patient has the right to the best possible treatment. Patients with rare diseases are our top priority. They are the core of our planning, our thinking and our actions », he concluded.