Paroxysmal Nocturnal Hemoglobinuria is an ultra-rare disease that affects red blood cells and generates serious complications if it is not detected and treated in time (Illustrative Image Infobae)
The Paroxysmal Nocturnal Hemoglobinuria (HPN) is a rare or rare disease in which red blood cells break down earlier than normal and is in the focus of attention of hematology specialists.
Experts warn about the importance of detect it early to improve the lives of those who suffer from it and today they are hopeful about a new therapy available in Argentina.
PNH is an ultra-rare chronic disease, whose incidence is 1 to 1.5 cases per million inhabitants per year, caused by a genetic mutation that attacks red blood cells. At a recent meeting in Buenos Aires, the 5th Latin American Conference of the Argentine Society of Hematology, they showed up important news around this diseaseamong them approval in Argentina of a new therapeutic alternative for patients who do not respond well to standard treatment.
The recent approval of pegcetacoplan in Argentina marks an advance in the treatment of PNH, offering an alternative for patients who do not respond to conventional treatments
The PNH is a chronic, acquired blood disease. Generated by a mutation in the gene PIG-APNH removes a protective layer of proteins on red blood cells, leaving them open to attacks from the person’s own immune system.
“PNH is an ultra-rare disease due to its low incidence,” explains the doctor Natalia Carnelutto, hematologist at the Hospital de Clínicas. According to the specialist, in Argentina there should be around 46 new cases each year, although she clarifies that there are many undiagnosed cases due to general ignorance about the disease.
PNH has several symptoms that can be confusing. “Anemia, fatigue, arterial and venous thrombosis, kidney failure and pulmonary hypertension “These are some of its main symptoms,” explained Dr. Carlos Vallejo Llamas, from the Healthcare Complex of the University of Salamanca and one of the representatives who participated in the conference.
These symptoms may also include abdominal pain, difficulty swallowing, and, in severe cases, a tendency toward infections due to low white blood cell counts. This variability of symptoms, which affects everything from the blood to the muscles, makes the diagnosis of the disease complex, and many people can go years without knowing that they suffer from it.
Pegcetacoplan can be administered subcutaneously by the patient themselves, improving their quality of life by avoiding frequent trips to the hospital (EFE)
Early diagnosis is key in the treatment of this disease. As it is a rare condition, the medical community insists that dissemination of their symptoms and access to scientific information explained in understandable terms They are fundamental.
“It is important that patients who receive their diagnosis can clarify their doubts. Access to rigorous, scientifically based information, but explained in a colloquial way, helps to accompany patients in a time of uncertainty,” commented Dr. Carnelutto. Early detection allows people to start appropriate treatment as soon as possible, which can reduce the risks of serious complications and, in turn, improve their quality of life.
The hemolytic anemia, or constant destruction of red blood cells, is one of the main consequences of PNH and seriously affects the quality of life of patients. The symptoms, which include extreme fatigue, pain, and difficulty performing everyday tasks, seriously limit well-being and the ability to lead a normal life. “Patients with PNH with high activity have a poor quality of life that seriously affects their work, personal and family spheres,” commented Dr. Vallejo Llamas. Additionally, PNH can lead to early mortality due to thrombotic and pulmonary complications if timely treatment is not received.
With the new treatment, many patients with PNH could see their anemia reduced and return to work, personal and family activities.
The recent approval of the drug in Argentina pegcetacoplana proximal inhibitor of the complement cascade, marks a significant advance in the treatment of PNH. This new drug is designed to help those patients who do not respond to standard treatment, providing an alternative to better control anemia and other symptoms related to the disease.
To date, the most common treatment for PNH has been a complement inhibitor that blocks the C5 terminal fraction, administered intravenously every 14 days. This treatment, introduced between 2007 and 2009, reduced thrombosis and significantly improved mortality in people with PNH, although it required constant visits to the hospital. Over time, other complement inhibitors improved the management of the disease, but pegcetacoplan represents a substantial change due to its innovative approach and its easier application for the patient.
“Pegcetacoplan allows patients who do not respond well to terminal inhibitors and who continue to have anemia to control the disease. It is administered twice a week subcutaneously and can be applied at home by the same patient.”highlighted Dr. Carnelutto. This innovation means greater autonomy for people with PNH, who will now be able to carry out their treatment from home, without having to travel to the hospital every 14 days.
PNH, caused by a mutation in the PIG-A gene, leaves red blood cells unprotected by the immune system, causing their destruction (Illustrative Image Infobae)
Specialists consider that pegcetacoplan marks the second great revolution in the management of PNHrepresenting a more effective type of medication to control the two types of hemolysis: intravascular and extravascular. “Now has come the second great revolution in the management of PNH: the appearance of ‘proximal inhibitors of the complement cascade’”, explained Vallejo Llamas.
This new drug inhibits the C3 fraction of complement, blocking the immune system’s attack on red blood cells from an earlier stage of the process. In clinical trials and in practice, pegcetacoplan has been shown to control both types of hemolysis, which means a significant reduction in anemia in patients and, in many cases, its disappearance.
With a notable improvement in the quality of life of patients, pegcetacoplan allows many of them to resume activities that seemed impossible before the appearance of this drug.
Early detection of PNH is key to avoiding complications, improving quality of life and reducing associated risks such as thrombosis and kidney failure. (Freepik)
“This symptomatic improvement frequently returns them to their work, personal, and family activities, being able to have a life similar to that of the healthy population of the same age,” Vallejo Llamas stressed. The effectiveness of pegcetacoplan is not only measured in the reduction of symptoms, but in the real impact it has on the daily lives of those who receive it, bringing them closer to a fuller and more active life.
PNH remains a difficult disease to diagnose due to lack of knowledge about its symptoms and rarity. Hence the importance of meetings such as the Latin American Hematology Conference, in which the dissemination of medical knowledge It allows the community to be attentive to possible signs and go to their doctors for an early diagnosis. As treatments progress, it is also essential promote early detection of PNH to reduce the rates of complications and mortality associated with this condition.
Thanks to the recent incorporation of pegcetacoplan, people with PNH in Argentina have one more option to manage their disease. Although it is not a cure, this medication gives patients the possibility of better controlling symptoms, reducing anemia and, ultimately, having a life as similar as possible to that of anyone their age.
PNH remains a challenge for medicine due to its complex nature and devastating effects. However, the arrival of new therapeutic alternatives such as pegcetacoplan represents an important milestone that could change the prognosis and quality of life of those facing this disease.
