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 is a serious disease, but it is 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) gives us a detailed and enlightening overview of this condition. "PTTa is a disease with an immunological basis," explains Dr. Pascual. "It develops spontaneously or can be triggered by certain factors, such as infections or exposure to some medications. What happens is a loss of immune tolerance, which causes the immune system, instead of protecting the body, to start attacking certain proteins that are vital for blood flow," such as the enzyme ADAMTS13. In other words, the immune system, which normally acts as a guardian of the body, becomes an aggressor that mistakenly attacks elements crucial to health, triggering a series of problems that mainly affect the blood and circulation.
Clinical manifestations of PTTa
This pathology manifests itself in various ways, but one of its most common symptoms is the appearance of small red spots on the skin, known as petechiae, together with hematomas without an obvious cause. Dr. Pascual stresses that "the decrease in platelets in the blood is one of the main indicators of this disease. In cases of PTTA, platelets can drop to extremely low levels, usually below 30,000, when the normal range would be 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 generates. It is a hemolytic anemia, which means that the red blood cells are prematurely destroyed. This destructive process occurs because the red blood cells must pass through small blood vessels where microthrombi are formed by platelet aggregation, i.e., small blood clots. "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 red blood cells is a key sign in its diagnosis and reflects the deep damage that the disease can cause in the blood and vital organs.
The diagnosis: confusion and fear
Diagnosis often occurs in the emergency department, which adds additional stress for patients. "When we explain to patients what is happening to them, the initial reaction is usually shock. It is a rare disease that most people have never heard of," says Dr. Pascual. This lack of knowledge, together with the severity of the symptoms, can lead patients to mistakenly assume that they are facing an even more well-known and feared condition, such as leukemia. This is due to the similarity in symptoms, especially regarding anemia and low platelet count.
Therefore, one of the biggest challenges for physicians is to reassure patients and help them understand the nature of their condition. "Although PTTa is a serious disease," it is not malignant and effective treatment is available." 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 it can be life-threatening if not properly treated.
"With proper treatment and the support of a caring community, patients can live fully, knowing they are not alone."
One of the most difficult aspects of TTPa is its tendency to recur. According to Dr. Pascual, "in up to 40% of cases, patients can experience a relapse, even after they have achieved what we consider to be a complete remission." This high recurrence rate means that patients must be under constant medical follow-up, even after they have been discharged from the hospital. This monitoring includes frequent blood tests and close monitoring of a key enzyme called ADAMTS13, which is found to be decreased in this disease. Measuring this enzyme allows physicians to detect signs of a possible relapse before clinical symptoms become apparent, which can be crucial for initiating early treatment and preventing complications.
For many patients, the possibility of relapse is a constant source of anxiety. The fear of symptoms returning often prevents patients from fully enjoying their daily lives, despite being 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 TTPa involves learning to live with some uncertainty, but it also involves trusting the treatment process and the support that physicians and patient associations can offer," she says.
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 an increase in 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 training. "These associations," stresses Dr. Pascual, "offer invaluable support. It is not just a matter of treating the physical symptoms, but also of addressing the emotional and psychological needs of the 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 is reason for optimism. With proper treatment and constant follow-up, many patients can lead a relatively normal life. 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 do not need a special diet," she explains, "but they do need to take care of their general health and be attentive to 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, 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 on 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 fully, knowing that they are not alone in their fight against this disease."
