International Day of Rare diseases Held on February 29, is a good occasion to talk about it. Specifically, from cushing syndrome, Pathology which was also topical this week. the reason? American actress Amy Schumer, who was forced to publicly reveal her suffering Having been the victim of countless inappropriate comments recently due to his noticeable physical change. In fact, Cushing's disease causes visible changes in many patients. One very distinctive feature is the so-called L effect Full moon face
the Marina, 35 years old, knows this well. “The first thing I noticed when I started doing it Raising cortisol It's like a tingling sensation on the face, like a tingling sensation, and after a few days my face looks like a full moon,” he explains to Vanguard.
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 high blood pressure or high cholesterol. But it didn't take long for the Navy to figure it out: “When I have a ring, it comes to the surface “Almost all the symptoms at once.”
First symptoms
It was in 2016 when he started showing hair loss, though she attributed it to a seasonal cause, hence, He didn't give it importance. Then he started doing it Weight gain “On those dates I had stopped smoking, and I linked one thing to the next.” He started exercising, even though he was unable to lose weight and was following a healthy diet prescribed by the doctor.
They started it too To hurt the joints. “I was losing muscle mass.” And all this while he continued to gain kilograms (he gained 20) and his face was swelling. It even suits him The base disappearsbruises began to appear without being beaten, and facial hair, so-called Abdominal pendulum (protrudes towards the pelvis) and large stretch marks on the legs, abdomen and arms.
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That's when she went back to her primary care doctor and he decided to send her to endocrinology. “This sounds like Cushing's syndrome.” let. And he got it right. They did the analysis, and through the echo, they discovered the benign tumor causing the disease.
In fact, the disease – which About 1,500 cases have been diagnosed in Spain. It is usually caused by an adenoma (non-cancerous tumor) in the pituitary gland, which is a gland located at the base of the brain, “which is a small factory for hormones,” according to Dr. Juan Villa, Director General of the Center. Recordati Laboratory for Rare Diseases.
“When this gland is triggered by an overproducing adenoma Generates abnormal amounts of cortisol, He adds: “A hormone we need every day, but in a certain amount, neither excess nor deficiency, and this generates damage in the medium and long term.” Among them are morphological changes, weakness of the limbs, thickening of the abdomen, stretch marks, fat deposits in the neck, osteoporosis…
Surgical operations to remove the disease
To try eliminate disease, A large number of patients undergo surgery to remove the adenoma. “The problem – says Vella – is that in more than half of the cases Pathology is reproduced again By cells that may remain, which cannot be treated surgically, and which continue to produce excessive amounts of cortisol. Here the solution is drug treatment.”
Marina was intervened twice. However, he continues his “cyclic Cushing's episode”: appearing and disappearing. He explains that he undergoes analytical tests every month and a half, and that the dose of medication he takes varies according to his cortisol levels. It is now awaiting evaluation by Undergoing radiotherapy and trying to remove the cells, Not visible on the ringer, which continues to cause pathology.
Since she is under control and treatment, she claims that the disease does not affect her at all. Another thing is when there is an outbreak. Here, climbing just one flight of stairs becomes “terrible”: “You're drowning and your muscles hurt.”
You can't even stand up for yourself
Pathology, in itself, causes Emotional irritability. “You can't even stand up for yourself.” It also affects her mentally, and it doesn't look good: “You're more depressed, and you don't feel like going out or doing anything.”
Fortunately, she responds “very well” to medication (she takes metoperone if necessary), which she does Outbreaks do not last A lot in time and from what she went through after giving birth, it took her about four months to recover. “At first it took longer, about seven or eight months.”
Few medications on the market
When he was diagnosed with the disease And he didn't stop working (she's a nurse). Her endocrinologist advised her to take time off because of the risk of bone fractures due to osteoporosis, but she says going to work was “good to keep her mind occupied.” Naturally, the day ended without strength. “He was dragging his leg because of the pain.”
There are many Few drugs are on the market to treat diseases. “In the last 20 years there has been absolutely nothing,” Dr. Vella points out. Just a year ago, his lab, Recordati Rare Diseases, which only looks to find molecules that can fight rare diseases, launched an orphan drug to treat Cushing's syndrome. “It's called esturisa (composed of the molecule osilodrostat), and there are some of them 100 patients in Spain take it With very good results today.”
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