Acute intermittent porphyria

Acute intermittent porphyria is a rare, or orphan, genetic disease, caused by the inability of the liver to metabolize porphyrin precursors. It presents with painful intermittent pain and may cause major neurological damage.

Crisis in patients may be caused by some medications, strict dieting or prolonged stress. However, the main triggers are female hormones associated with the menstrual cycle, and so the disorder occurs particularly in young women with weighty work and family responsibilities.

There is currently no specific treatment for this disease that, on occasion, can lead to chronic pain and hypertension, significant neurological damage and even liver and / or kidney transplantation may be necessary.

Cima researchers accumulate more than 30 years of experience in the study of porphyria. They collaborate with the Hospital of Navarra, the Hospital de Tudela and other national and international groups dedicated to porphyria in order to better understand mechanisms related to the disease and to characterize new markers for the early detection and evolution of the attacks.

One of the main objectives of the Hepatology Program is to develop new therapeutic strategies based on gene therapy and innovative biotechnological products.