Advances in the diagnosis and treatment of amyloidosis are encouraging, but there is still a long way to go to ensure adequate and accessible care for all patients. Dr. Enrique Alexander Berrios, a cardiology specialist, highlights the challenges in treating this little-known disease. In the past, liver transplantation was an option for treating transthyretin amyloidosis, but now the aim is to advance in diagnosis and treatment, with medications in the process of inclusion in Latin American health systems.
In this regard, the global initiative Collaborate was created, bringing together doctors, patients, and health administrators to address issues related to low-prevalence diseases such as amyloidosis. Dr. Berrios emphasizes the importance of awareness and timely diagnosis to combat this condition, which can manifest quietly and devastatingly. Coordinated education, diagnosis, and treatment are key to changing the course of amyloidosis.
Regarding the social aspect of the disease, Dr. Berrios highlights that it not only affects patients but also their caregivers and loved ones. Cardiac amyloidosis, one of the forms of the disease, is characterized by the accumulation of abnormal proteins in tissues, especially in the heart, which can lead to a series of additional symptoms and affect various organs.
The delay in the diagnosis of amyloidosis can be up to seven years in some cases, posing a great challenge for patients and their families. To improve the situation, Dr. Berrios advocates for greater medical and public education about amyloidosis. Additionally, he mentions the development of a Latin American registry for transthyretin amyloidosis to collect data on the disease in the region.
In the field of treatment, promising advances have been identified, such as cardiac scintigraphy, a non-invasive study that can replace biopsy in many cases. Medications that silence or decrease the production of the protein responsible for amyloidosis have also been researched. Overall, Dr. Berrios insists on the importance of technological innovation and social and emotional support to address this complex and little-known disease.