Acute porphyria is a rare metabolic disease that continues to be underdiagnosed, according to Dr. Susana Monroy Santoyo. In a recent interview, the doctor highlighted the importance of education and awareness to improve the experience of those living with this condition. Monroy explained that porphyrias are divided into two main groups: erythropoietic, which affect the bone marrow, and acute, which originate in the liver.
Dr. Monroy emphasized that patients with acute porphyria often spend years seeking an appropriate diagnosis, which she describes as "the diagnostic odyssey." Although most carriers of this disease do not present clinical symptoms, urgent management of porphyric crises is necessary. Dr. Monroy stressed the need for greater medical education about porphyria and advocated for early and accurate diagnosis.
Acute porphyria is characterized by acute attacks with symptoms such as intense abdominal pain, vomiting, anxiety, and tachycardia. Dr. Monroy highlighted the importance of early detection and appropriate treatment to improve the quality of life for patients. She also mentioned the availability of specific treatments approved since 2017 that can help manage acute episodes.
In the medical field, Dr. Monroy urged for greater awareness about porphyria and the importance of considering this disease in patients with vague symptoms. She pointed out that Mexico has made progress in the availability of medications to treat porphyria, but there is still work to be done in timely diagnosis and proper management of this condition. Acute episodes of porphyria can be considered medical emergencies due to the serious complications that can arise.
Acute porphyria is known for its nonspecific symptoms and its ability to mimic other more common medical conditions. Dr. Monroy underscored the need for a multidisciplinary approach in the management of this disease and the critical role of medical education in its diagnosis and treatment.
