The International Day of Rare Diseases, celebrated yesterday, is a good occasion to talk about one of them. Specifically, Cushing's syndrome, a pathology that has also been topical this week. The reason? The American actress Amy Schumer, who has been forced to publicly reveal that she suffers from it after having been the victim of countless inappropriate comments in recent times due to her notorious physical change. Indeed, Cushing's causes obvious changes in many patients. A very characteristic one is the so-called full moon face effect.
Marina, 35 years old, knows him well. “The first thing I notice when my cortisol is starting to rise is like a tightness in my face, like a tingling, and a few days later I get a full moon face,” she explains to La Vanguardia. This disease usually has a late diagnosis (between five and seven years) and the reason lies in the presence of symptoms that can be confused with other ailments, such as hypertension or high cholesterol. But it didn't take long for Marina to be detected: "When I have an episode, almost all the symptoms appear at the same time."
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 give it importance. She then she started to gain weight. “At that time I had stopped smoking, and I associated one thing with the other.” She started playing sports, although she couldn't lose weight, even though she followed a healthy diet prescribed by a doctor. Her joints also began to hurt. She “she was suffering from a loss of muscle mass.” And all this while she continued adding kilos (she gained 20) and her face was swelling. She even lost her period, she began to develop bruises without having been hit, facial hair, the so-called pendulous abdomen (projected towards the pelvis) and large stretch marks on her legs, abdomen and arms.
That's when she went back to her primary care doctor and he decided to send her to the endocrinologist. “This sounds like Cushing's syndrome,” she snapped. And she was right. They did an analysis and, through an MRI, they detected the benign tumor that is causing the pathology.
Indeed, the disease – of which about 1,500 cases have been diagnosed in Spain – is usually caused by an adenoma (non-cancerous tumor) in the pituitary gland, a gland housed at the base of the brain “and which is a small hormone factory.” in the words of Dr. Juan Vila, general director of the Recordati Rare Diseases laboratory. “When this gland is triggered by a hyperproducing adenoma, it generates abnormal amounts of cortisol, a hormone that we all need daily but in a certain amount, neither in excess nor in deficiency, and that generates damage in the medium and long term,” he adds. Among these, morphological changes, weakness in the extremities, abdominal thickness, stretch marks, fat deposits in the neck, osteoporosis...
To try to eradicate the condition, a large number of patients undergo surgery to remove the adenoma. “The problem – argues Vila – is that in more than half of the cases the pathology is reproduced again by the cells that may remain, something that cannot be addressed surgically, and that continue to produce excessive amounts of cortisol. There the solution is pharmacological treatment.”
Marina has been operated on twice. Still, she continues "with a cyclical Cushing": she appears and disappears. She explains that she has analytical checks every month and a half and that the dose of the medication she takes varies depending on her cortisol levels. She is now awaiting evaluation to undergo radiotherapy and try to eliminate the cells, invisible to MRI, that continue to cause the pathology.
Being controlled and medicated, she assures that today the disease does not affect her in any way. Another thing is when you have an outbreak. There, going up just one floor of the stairs becomes something “horrible”: “You suffocate and your muscles hurt.”
The pathology, in itself, causes emotional irritability. “You can't even stand yourself.” It also affects her emotionally, by not looking well: “You are more depressed, you don't feel like going out or doing anything.”
Fortunately, she responds “very well” to the medication (in her case she takes Methopirone), which means that the outbreaks do not last long. In the one she suffered after giving birth, it took her about four months to recover. “In the first one it cost me more, about seven or eight months.”
When the disease was detected, she did not stop working (she is a nurse). Her endocrinologist advised her to take sick leave due to the risk of bone fracture due to osteoporosis, but she assures that going to work was "good for her to keep her mind entertained." Of course, she ended the day without strength. "She was dragging along." the leg because of the pain.”
There are very few drugs on the market to treat the pathology. “In the last 20 years there was absolutely nothing,” says Dr. Vila. Just a year ago, his laboratory, Recordati Rare Diseases, which only investigates the discovery of molecules that can combat rare diseases, launched an orphan drug to treat Cushing's syndrome. Named Isturisa (composed of the molecule osilodrostat), “there are about 100 patients in Spain who are taking it with very good results today,” he concludes.
