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Acne, slightly overweight, round face, stretch marks – many teens have this problem and hope to grow out of it. Agata had it too, but another diet and fitness did not help. Even when she became a student, acne did not disappear. He developed hypertension, excess cortisol, diabetes, osteoporosis, and mycosis. For years, doctors were unable to make a diagnosis. And this was Cushing’s disease that, if left untreated, could even kill.
- The characteristic appearance of the patient and inadequate age diabetes, hypertension, heart failure or osteoporosis should raise suspicion. – Then a test costing about PLN 20 should be done – says prof. Zgliczyński
- To prof. Wojciech Zgliczyński receives patients previously treated by diabetologists, orthopedists, gynecologists and dermatologists. – Each of these doctors focused on their specialty sees only a fragment of the disease
- The professor admits that Agata is not the first patient to diagnose herself. He had a case of a sick woman who came across this disease thanks to the series “Dr. House”
How to get rid of excess weight? How to get rid of acne? – teenage Agata kept asking herself these questions. And it worked: a slimming diet – first, then more, more and more restrictive. The next ones are under the supervision of a dietitian. None of this, the scale did not budge. Fitness and jogging didn’t work either. Instead of weight loss, exhaustion and menstrual problems appeared. As a twenty-something Agata not only had trouble accepting her appearance, but also had serious health problems. – If you don’t help me, then no one – finally, prof. Wojciech Zgliczyński, head of the CMKP Endocrinology Clinic at the Bielański Hospital in Warsaw. Agata was 23 years old.
Diabetes mellitus and polycystic ovaries
She was in her sophomore year in law when she stopped menstruating. First thought: pregnancy. The test showed a negative result, but Agata realized that she was hardly fastening her bra. The weight showed 4 kg more, she decided to take care of herself. Fitness, gym – every other day. A friend from the fifth year of a dietitian wrote a menu. Agata thought that due to intensive training, she felt more and more weakened. – I’m stubborn and if I decide to do something, I can do it – she says. Libra, however, turned out to be more stubborn. Agata, instead of losing weight, get back. More red stretch marks appeared on her skin. – I was ashamed to change clothes at the gym. The red “scars” looked horrible, she recalls. The dietitian suspected that the client eats between meals. Agata decided to tell the family doctor about everything. He gave a referral for a sugar and thyroid hormone test. And he recommended… more exercise and under-eating between meals. – “Why doesn’t he believe me ?!” – I thought, resentful – recalls Agata. When she returned with the results, the doctor referred her to a diabetologist. Sugar level significantly exceeded. – I broke down. I became a diabetic. I was browsing the internet and reading that I was in danger of blindness, foot amputation and dialysis – she recalls. The diabetologist was surprised by her young age. He prescribed pills. And when he heard her hair was falling out, he suggested polycystic ovary syndrome.
Depression, mycosis, maybe HIV
Agata searched the internet again. Polycystic ovary syndrome fit like a glove. The gynecologist noticed that Agata had bruises on her legs and excessive hair, ordered transvaginal ultrasound and hormone tests. The results were normal and Agata was still gaining weight. She already weighed 10 kg than the year before. In the mirror, she saw her swollen face, thick neck, neck, stomach. Only the legs were slim. – And bruised. In addition, I started getting acne – she recalls. She struggled to get out of bed in the morning to go to class. Preferably she would stay at home. She stopped seeing friends and going to fitness. Besides, not only because of being overweight. Her nails started to look terrible. Yellow ragged, scaly, it was ringworm. The dermatologist suggested HIV, but the test was negative. The mycosis could have been caused by diabetes, but thanks to Agata’s pills she had sugar under control. Still back. – I couldn’t fit into my clothes. I didn’t want to buy new ones either when I saw what size I needed. Most of my friends thought that I just didn’t take care of myself – she recalls. The stretch marks on her thin skin became so deep that she could insert a finger into them. They looked like wounds. Agata tried to diagnose herself again, or rather with the help of Dr. Google. Until she hit: Cushing’s Disease – that was it! Excessive secretion of cortisol, a hormone of the adrenal glands, a rare disease. During the first five years after the onset of symptoms, every second patient dies, if the disease is not treated. Cardiovascular disorders are the most common direct causes of death. The culprit is the excessive secretion of ACTH by the pituitary gland – a hormone that stimulates the adrenal glands to release intense cortisol. This hormone works, among others anti-inflammatory, but when it is too much it causes high blood pressure, diabetes, osteoporosis, blood clots and infections. The excess of cortisol causes changes in the patient’s appearance: redness and rounding of the face, abdominal obesity, fatty neck, face and torso. Legs lose weight as a result of limb muscle loss. Skin bruising and stretch marks are also typical. In 70 percent of cases of Cushing’s disease, it is caused by a benign tumor, the pituitary adenoma.
A simple study is enough
Endocrinologist prof. Wojciech Zgliczyński says that patients most often visit him about one and a half years after the first symptoms appear. Yes, like Agata. Before that, they are treated by diabetologists, orthopedists, gynecologists and dermatologists. “Each of these physicians focused on their specialty sees only a fragment of the disease and deals with it, and because Cushing’s disease is rare, no one ever thinks of suspecting it,” he explains. He adds that Agata was not his first patient who diagnosed herself. Another discovered the cause of her ailments after watching one of the episodes of “Dr. House”, where a 10-year-old obese girl is admitted to the hospital, whose doctors have diagnosed a heart attack. It turned out that she couldn’t lose weight because she had Cushing’s disease. According to prof. Zgliczyński, the characteristic appearance of the patient and age-inadequate diabetes, hypertension, heart failure or osteoporosis should raise suspicion. – Then you should do a cortisol level test costing about PLN 20 after administering a low dose – 1 mg of dexamethasone. The patient takes it orally at bedtime, and the next morning on an empty stomach must have a blood test. If the cortisol level is higher than 50 nmol / L (<1,8 μg / dL), the doctor should not conduct further diagnostics, but immediately send the patient to a reference center dealing with the treatment of this rare disease, explains the professor. Agata, when she knew what was wrong with her, returned to her family doctor. Resentful, she asked why he hadn't considered that she might have had Cushing. - I heard: “I have 10 minutes for one patient. Half of the patients who visit me are overweight and everyone says that they hardly eat anything, "he recalls.
Pituitary adenoma resection
Time is invaluable in treating this disease, as 50 percent of patients die within 5 years of the onset of symptoms. It is most often sudden death caused by pulmonary embolism, which occurs 10 times more often in people with Cushing’s disease. About 80 percent of patients are cured by excision of the pituitary tumor. Sometimes it is so small that it cannot be seen by MRI or even during surgery, despite the use of a powerful microscope. Therefore, 20 percent of patients require further operations. Half of them recover. Sometimes the location of the nodule makes it impossible to remove it because it adheres, for example, to a nerve or vessel. Then, radiosurgery is used, i.e. destroying the tumor with rays. However, if that still fails, the adrenal glands must be removed. Without these glands, if you take the right medications, you can live and women can become pregnant and have children. Meanwhile, their excess cortisol can kill.
Unlucky or lucky?
In Agata’s case, the resonance did not reveal a tumor. It was only during the operation that it was possible to locate him. The procedure was performed using a minimally invasive method: the surgeon reached the pituitary gland using micro-tools through the nose and removed the tumor. – In the reference center for this type of treatment at the Military Medical Institute in Warsaw, with which we cooperate, the percentage of patients healed in this way reaches 90 percent with the European average of 80 percent – emphasizes Prof. Zgliczyński. After such an operation, cortisol drops to zero in patients. Hypertension and diabetes disappear within a dozen or so days. It takes several months to get rid of skin lesions and excess weight. – The disease cut me out of my life for over a year. It was a nightmare – recalls Agata. “I am furious at the thought that Cushing, which affects only 30 people in a million, happened to me. But if I hadn’t tried to diagnose myself, or had found another doctor, I might have been dead in 3 years. So maybe I’m lucky after all.