We interviewed Cristina Pascual, expert in hematological diseases and treasurer of the Spanish Group of Apheresis (GEA), a working group under the Spanish Society of Blood Transfusion and Cell Therapy and the Spanish Society of Hematology and Hemotherapy (SEHH) on the occasion of World Acquired Thrombotic Thrombocytopenic Purpura Day, known as PTTA.
“It’s a serious illness, but it’s not malignant”:
Small red spots on the skin or bruises that appear for no apparent reason may seem insignificant to most people. However, what is often interpreted as a simple bruise or unimportant mark, in some cases, may be a symptom of a rare and potentially serious disease called Acquired Thrombotic Thrombocytopenic Purpura, known as a TTPa. This disease, although unknown to many, represents a complex challenge for both patients and treating physicians.
Dr. Cristina Pascual, an expert in hematological diseases and treasurer of the Spanish Apheresis Group (GEA), offers us a detailed and insightful overview of this condition. “PTTa is an immune-mediated disease,” explains Dr. Pascual. “It develops spontaneously or can be triggered by certain factors, such as infections or exposure to certain medications. What happens is a loss of immune tolerance, which causes the immune system—instead of protecting the body—to begin attacking certain proteins vital to blood flow,” such as the enzyme ADAMTS13. In other words, the immune system—which normally acts as the body’s guardian—becomes an aggressor that mistakenly attacks elements crucial to health, triggering a series of problems that primarily affect the blood and circulation.
Clinical manifestations of PTTa
This condition manifests in various ways, but one of its most common symptoms is the appearance of small red spots on the skin, known as petechiae, along with bruises with no apparent cause. Dr. Pascual emphasizes that “a decrease in blood platelet count is one of the main indicators of this disease. In cases of ITP, platelet counts can drop to extremely low levels—generally below 30,000—when the normal range is between 140,000 and 400,000 platelets.” This drastic decrease in platelet count not only increases the risk of bleeding but also causes symptoms that can easily be mistaken for other conditions, especially those related to anemia.
A distinctive feature of this disease is the type of anemia it causes. It is hemolytic anemia, which means that red blood cells are destroyed prematurely. This destructive process occurs because red blood cells must pass through small blood vessels where microthrombi—small blood clots—form due to platelet aggregation. “These microthrombi,” explains Dr. Pascual, “cause the destruction of red blood cells, leading to the appearance of schistocytes, which are damaged and fragmented red blood cells.” The presence of these broken red blood cells is a key sign in the diagnosis and reflects the profound damage the disease can cause to the blood and vital organs.
The diagnosis: confusion and fear
The diagnosis is often made in the emergency room, which adds to the patients’ stress. “When we explain to patients what is happening to them, the initial reaction is usually one of shock. It is a rare disease that most people have never heard of,” says Dr. Pascual. This lack of awareness, combined with the severity of the symptoms, can lead patients to mistakenly assume they are facing an even better-known and more feared condition, such as leukemia. This is due to the similarity in symptoms, especially with regard to anemia and low platelet counts.
That is why one of the biggest challenges for doctors is to reassure patients and help them understand the nature of their condition. “Although PTTa is a serious disease,” it is not malignant, and there is an effective treatment.” This initial treatment usually involves hospitalization to stabilize the patient and provide the necessary care to control symptoms and prevent serious complications. The stabilization process is crucial, as the condition can be life-threatening if not treated properly.
“With proper treatment and the support of a caring community, patients can live life to the fullest, knowing they are not alone.”
One of the most challenging aspects of PTTa is its tendency to recur. According to Dr. Pascual, “in up to 40% of cases, patients may experience a relapse, even after achieving what we consider a complete remission.” This high recurrence rate means that patients must remain under constant medical supervision, even after being discharged from the hospital. This monitoring includes frequent blood tests and close monitoring of a key enzyme called ADAMTS13, which is reduced in this disease. Measuring this enzyme allows doctors to detect signs of a possible relapse before clinical symptoms appear, which can be crucial for initiating early treatment and preventing complications.
For many patients, the possibility of a relapse is a constant source of anxiety. The fear that symptoms will return often prevents patients from fully enjoying their daily lives, even though they are in remission. However, Dr. Pascual emphasizes the importance of patients understanding that, with proper monitoring and ongoing follow-up, it is possible to manage the disease effectively. “Living with PTTa” means learning to live with a certain degree of uncertainty, but it also means trusting the treatment process and the support that doctors and patient organizations can offer,” she notes.
Importance of support and resources
In the past, support for patients was limited, leaving many to face the disease alone. However, in recent years, the advent of new treatments and increased awareness of the disease have led to greater availability of resources and support. Although there is no specific patient association for PTTa, the Federation of Hemophilia Associations (FEDHEMO) has taken this group of patients under its wing, providing them not only with emotional support but also with psychological counseling and medical education. “These associations,” Dr. Pascual emphasizes, “offer invaluable support. It’s not just about treating the physical symptoms, but also addressing the emotional and psychological needs of patients.”
The role of these organizations is critical in helping patients deal with the daily challenges of living with this rare disease. They provide a space where patients can share their experiences, learn from each other and feel part of a community that understands what they are going through. This sense of belonging and support can be a powerful tool to help patients cope with the fear and uncertainty that often accompany this disease.
Despite the challenges, there are reasons for optimism. With proper treatment and regular follow-up, many patients can lead relatively normal lives. Dr. Pascual advises patients to maintain a healthy and active lifestyle, avoiding a sedentary lifestyle and adopting a balanced diet, such as the Mediterranean diet, which is rich in fruits, vegetables, and healthy fats. “They don’t need a special diet,” she explains, “but they should take care of their overall health and be mindful of cardiovascular risk factors.”
Dr. Pascual's approach stresses the importance of living with common sense, paying attention to any signs of relapse and seeing a doctor at the onset of unusual symptoms. This proactive approach allows patients to take control of their health and reduce the impact this disease can have on their daily lives.
However, the fear of relapse remains the most limiting factor for many patients. This fear, while understandable, should not be paralyzing. With the right support—both medical and emotional—patients can learn to manage this fear and move forward with their lives. Dr. Pascual emphasizes that “although the fear of relapse is real, it should not define patients’ lives. With proper treatment and the support of a caring community, patients can live life to the fullest, knowing that they are not alone in their fight against this disease.”