He Cushing syndrome It is a minority disease produced by a excess cortisolthat uncontrolled the entire organism. This Tuesday, April 8 is celebrated on World Day.
With a very low frequency, which is a great challenge for both diagnosis and treatment. We calculate that in Spain there are about 1,500 people affected, the Doctor Juan Vila Álvarez, General Director of Rememberi Rare Diseases In Spain, Portugal and Türkiye.
Most cases can be resolved by surgery, but there are between 300 and 400 patients who require chronic life for life, since they cannot be surgically intervened successfully.
This disease is caused by a hormone producing tumor that stimulates cortisol secretion. During the surgical intervention the tumor is attempted to the maximum, but there is a risk that microscopic cells that continue to secrete excess cortisol are continued.
As they cannot completely eliminate, a pharmacological treatment is needed to control this hyperproduction and keep the patient stable. However, there are cases like Marta’s (fictional name) that “resolved on its own.”
“For years I lived with extremely high cortisol levels. To get an idea, the normal is around 290, but I got to reach 3,000 figures. This not only affected my body, but also my mind“, tells this newspaper in a telephone conversation.
To control these levels, it took an antifungal that, as a side effect, reduced cortisol. However, this treatment was not precise: Or he lowered it too much, leaving me completely placated, or it was not enough. I never managed to feel good at all.
A lunar of “changed life”
In the middle of the entire process, he discovered a mole on the back. For a year, his header considered him harmless, but something inside her told him it was not normal.
Finally, he decided to go to a specialist. As soon as they saw it, they made the decision to remove it immediately. Later, they confirmed that it was a melanoma.
The curious thing was that, after surgery, their cortisol levels began to stabilize without medication. Although no specific studies were carried out that linked melanoma with the Anomalous cortisol productionthe truth is that, once removed, his body began to self -regulate naturally.
During Cushing’s disease, my appearance had changed dramatically. My face had the typical “full moon”
“Little by little I was reducing the medication until it was completely left. Initially, I was afraid to fall, but since 2018 my hormonal levels have been completely normal,” says Marta, who prefers to maintain her anonymity because of the enormous stigma that pursues this disease.
His body also began to recover his shape. “During Cushing’s disease, my appearance had changed dramatically. My face had the typical” full moon “, my body accumulated fat in unusual areas and had lost much of my muscle mass. It took me about two or three years to look back to the one who was before.”
The signs of excess cortisol
And, the symptoms are very vague and general: chronic tiredness, weight gain, weakness, anxiety, depression, sleep disorders … All this symptomatology can be associated with many other diseases, so the diagnosis is delayed, emphasizes Dr. Vila Álvarez.
Marta had a lot of edema, especially in the face and in the belly, which looked very inflamed. It was the typical form of cushing syndrome: a Round belly with finer legs.
Despite this, it took great care. One of the most difficult parts of the syndrome was the uncontrolled hunger. It was not only anxiety when eating; Even after ingesting four dishes, I still had appetite.
After stabilizing, I lived three years with constant fear that the disease would return
Even so, it made a constant effort to stop it and maintain a balanced diet, based on healthy vegetables and meals. He did not abuse fast food and tried to maintain control as much as possible.
But the worst of Cushing’s syndrome came later. “I spent so much time without answers that I ended up developing an enormous uncertainty about me health. In fact, after stabilizing, I lived three years with constant fear that the disease would return. “
Cushing Syndrome is a deeply disabling disease. During those years, I could not lead a normal life. Any trivial situation had the power to overflow it emotionally, affecting its day to day in a significant way.
In addition to fatigue and weakness, there is a greater risk of mood disorders, insomnia, hypertension, diabetes, and cardiovascular events such as thrombosis. All this considerably reduces the quality of life and increases the risk of mortality.
The difficulty of diagnosis
The diagnosis was not simple. He didn’t have a typical Cushing syndrome. He had a tumor with ectopic secretion of ActH PQ so it is called at the medical level and is key to differential diagnosis between acth dependent tumors or not, which made it even more complicated.
The risk? That when it finally appeared, I could have done metastasis. “That uncertainty was atrocious. I did not have the diagnosis of an identified tumor, only that of a cushing syndrome with secretion of unloaded origin, that is, without knowing where the tumor was. And that anguish consumes you inside.”
The difficulty sleeping was also one of the most “hard” symptoms. During the first months, I used to wake up at three in the morning with “desire to do many things.”
Today, continue forward without the need for medication and with all its intact organs, something that does not always happen in cases like yours. Although the Disease was left behindits impact on life was deep.
However, in some way, it also allowed him to discover a new purpose: to better understand the human body and offer support to other people who may be going through a similar situation, which led to study medicine in 2017.