Doctor with rare disease tells challenges

At the age of 28, physician Juliana Costa, from Ouro Fino (MG), noticed the sudden appearance of small bruises on her arm. In a few days they were all over the body. This was the first apparent symptom of atypical hemolytic uremic syndrome (aHUS), a rare disease that manifests itself with anemia, a drop in the number of platelets and kidney problems.

“Until I was 28, I was healthy. Suddenly, the symptoms happened very quickly. I had severe anemia, lots of bruises all over my body and kidney symptoms. That’s when I started to swell. All in a matter of 15 days”, recalls Juliana, now 41 years old.

The succession of symptoms in such a short interval paralyzed the miner, who took two weeks to seek specialized help. “I was afraid it was something serious. When I went to the emergency room, I knew I wasn’t going to leave, ”she says. She spent approximately one month hospitalized to treat the condition already in an advanced stage.

The correct diagnosis of the condition, however, was made just two years later, after countless investigation tests and hemodialysis sessions to ensure the functioning of the kidneys. “Doctors thought of several possibilities – leukemia, rare hematological diseases, rare autoimmune diseases – but they did not arrive at a diagnosis”, he recalls. One of these was atypical hemolytic uremic syndrome (aHUS), confirmed by a test sent for laboratory analysis in Germany in 2011.

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Rare disease

aHUS is a rare and serious disease, often related to genetics. It is classified as atypical when it is not related to bacterial infections, vitamin B12 deficiency, presence of Streptococci or other infections, such as influenza A H1N1 and HIV, which can cause similar symptoms.

The condition is known as a thrombotic microangiopathy (MAT), which causes microthrombi and clogs vessels throughout the body, most frequently in the kidneys, which justifies Juliana’s kidney symptoms.

Doctor Lilian Palma, a pediatric nephrologist specializing in aHUS, explains that the most common cause of TMA is infection with a bacteria that causes diarrhea. Intestinal infection leads to damage to kidney cells and the entire picture of hemolytic uremic syndrome, and usually resolves within two to four weeks.

“But aHUS is not associated with this intestinal infection, but with a genetic component and can manifest itself in childhood or adulthood”, he says.

Classic symptoms include bloating, pallor, and interruption of urine. This triad, according to Lilian, characterizes thrombotic microangiopathy. When discovered, the patient needs to be promptly admitted. “And that’s where the big challenge comes in: trying to identify the cause of these clinical and laboratory alterations”, considers the doctor.

Several factors lead to the same clinical manifestation – including infection, thrombotic thrombocytopenic purpura (TTP), drug use, pregnancy or cancer, for example – and this is the great difficulty in arriving at the diagnosis.

To confirm aHUS, a genetic panel test is required (positive in about 60% of cases), in addition to ruling out other causes of TAM.

Treatment

With the correct diagnosis, Juliana was able to begin the appropriate treatment for the disease, with infusions of a monoclonal antibody called eculizumab (Soliris). When the parameters of the condition normalized and the disease was inactivated, the patient underwent a kidney transplant with the organ donated by an aunt.

Because it is a disease of genetic origin, Juliana has an indication of treatment for the rest of her life, to prevent the condition from affecting the new kidney again. Currently, infusions with eculizumab occur every two weeks to keep the condition under control.

New treatment for aHUS

The National Health Surveillance Agency (Anvisa) approved, in January this year, the registration of ravulizumab, sold under the brand name Ultomiris. The drug manufactured by AstraZeneca is also indicated for patients with generalized myasthenia gravis (gMG) and paroxysmal nocturnal hemoglobinuria (PNH).

Both eculizumab and ravulizumab (Ultomiris) are types of targeted therapy, and act exactly on the problem, causing the uncontrolled development of the disease to be stopped. “The sooner it is used, the greater the chance of recovering kidney function and stopping anemia and thrombocytopenia”, says the nephrologist.

One of the benefits of ravulizumab is the gain in the patient’s quality of life. With it, infusion intervals go from two to eight weeks. Juliana’s case, for example, can benefit from the use of the new medication.

“Ravulizumab was made with four amino acid substitutions, causing its half-life to increase from 11 to 51 days. This means that the infusions can happen every eight weeks, greatly improving the logistics of these patients”, explains Lilian.

Incorporation into the SUS

The inclusion of new therapies and treatments in the Unified Health System (SUS) is evaluated by the National Commission for the Incorporation of Technologies in the Unified Health System (Conitec). The body takes into account aspects such as efficacy, effectiveness and safety.

The Ministry of Health reported that, so far, it has not received a request from the pharmaceutical company to start evaluating Ultomiris by Conitec.

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