International Rare Disease Day, which was yesterday, is a good opportunity to talk about one. Specifically, Cushing’s syndrome, a pathology which, moreover, has been topical this week. The reason? The American actress Amy Schumer, who has been forced to publicly reveal that she suffers from this disease after being the victim of countless inappropriate comments in recent times due to a noticeable physical change. Indeed, Cushing’s syndrome causes obvious changes in many patients. A very characteristic one is the so-called full moon face effect.
The 35-year-old Marina knows this well. “The first thing I notice when my cortisol starts to rise is like a rash on my face, and after a few days my face looks like a full moon,” he explains to La Vanguardia. This disease is usually diagnosed late (between five and seven years) and the reason lies in the presence of symptoms that can be confused with other diseases, such as hypertension and high cholesterol. But it didn’t take long for the Navy to detect the syndrome: “When I have an episode, I get almost all the symptoms”.
It was in 2016, when it began to manifest itself through hair loss, although she attributed it to a seasonal reason and therefore did not attach importance to it. Then he started gaining weight. He started to do sport, but he couldn’t lose it, and he was following a diet prescribed by a doctor. His joints also started to hurt. And all while he continued to gain pounds (he gained 20) and his face was swelling. Even her period disappeared, bruises started to appear without having had a stroke, facial hair, the so-called pendulum abdomen (projected towards the pelvis) and large stretch marks on her legs, abdomen and arms.
This is when she returned to the primary care doctor and decided to send her to the endocrine. “This looks like Cushing’s syndrome”, he said. And he got it right. They did an analysis and, by means of a resonance, they detected the benign tumor that causes the pathology.
Indeed, the disease – around 1,500 cases have been diagnosed in Spain – usually appears due to an adenoma (non-cancerous tumor) in the pituitary gland, a gland located at the base of the brain “and which is a small hormone factory”. in the words of Dr. Juan Vila, director general of the Recordati Rare Diseases laboratory. “When this gland is triggered by a hyperproductive adenoma, it generates abnormal amounts of cortisol, a hormone that everyone needs, but in a certain amount, neither in excess nor in deficit, and this harms the patient in the medium and long term,” he adds. To try to eradicate the disease, a large number of patients undergo surgery to resect the adenoma. “The problem – argues Vila – is that in more than half of the cases the pathology is reproduced by the cells that may remain, something that cannot be addressed surgically, and that continue to produce excessive amounts of cortisol. Here the solution is pharmacological treatment”.
The Navy has intervened twice. However, he continues “with a cyclical Cushing’s”: he appears and disappears. He explains that they do analytical checks every month and a half and that they vary the dose of the medication he takes depending on his cortisol levels. He is now awaiting evaluation to undergo radiotherapy.
Since she is controlled and medicated, she assures that today the pathology does not affect her in any way. Another thing that is different is when it has an outbreak. In these cases, going up just one floor of the stairs becomes something “horrible”. When he was diagnosed with the disease, he did not stop working, even though he was at risk of bone fracture due to osteoporosis. “Going to work was good for me to keep my head distracted, even though I ended up dragging myself”, he concludes.
