He World Rare Disease Day it is an opportunity to acknowledge the existence of these diseases and to raise awareness of the challenges faced by those who suffer from them. In Mexico, it is estimated that around three million people suffer from some rare disease, This represents a great challenge for the health system.
It is essential that authorities, doctors and society in general come together to improve the detection, diagnosis and treatment of these diseases. Also, it is necessary drive research and development of innovative therapies to improve the quality of life of patients and their families.
What is cardiac amyloidosis, the rare disease that affects the heart
In Mexico, the cardiac amyloidosis is an example of a rare disease which represents a challenge of diagnosis and treatment, but thanks to research and collaboration between different actors, there is hope to improve the quality of life of patients.
Cardiac amyloidosis is a rare disease that characterized by an abnormal buildup of a protein called amyloid in the heart. This can lead to a number of symptoms such as fatigue, shortness of breath, and edema, as well as serious complications such as heart failure and arrhythmias.
However, cardiac amyloidosis can be difficult to diagnose due to its similarity to other heart diseases more common. The Pfizer specialist in rare diseases explains that this disease can be confused with Alzheimer’s disease, since both are characterized by an abnormal accumulation of proteins.
Besides, the lack of knowledge and awareness about cardiac amyloidosis in Mexico it also contributes to its underdiagnosis. Patients often take years to receive an accurate diagnosis, thus losing valuable time to start treatment and monitor disease progression.
The role of pharmaceutical companies in rare disease research
Dr. Pastrana points out that companies Pharmaceuticals play an important role in research and the development of treatments for rare diseases, as these diseases are often overlooked by researchers and the pharmaceutical industry due to their low prevalence.
In the case of Pfizer, the company has developed innovative treatments for rare diseases such as cardiac amyloidosis, and has collaborated with medical institutions and patient organizations to improve the diagnosis and treatment of these diseases.
In addition, Dr. Pastrana highlights the importance of collaboration between governmentshealthcare professionals, pharmaceutical companies and patient organizations to improve the quality of life of people living with rare diseases.
In the case of cardiac amyloidosis, there are different treatment options. treatment that seeks to reduce the load of amyloid in the heart and improve heart function. These include drug treatments such as colchicine, protease inhibitors, and protein synthesis inhibitors, as well as stem cell transplant therapy.
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However, the specialist emphasizes that each case is different and treatment must be individualized. For this reason, it is important to have a multidisciplinary team that includes cardiologists, hematologists, and nephrologists, among other specialists, to provide comprehensive and personalized care to each patient.
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