Acute intermittent porphyria research

Acute intermittent porphyria is a rare genetic disease of hepatic origin that affects about 5 out of every 100,000 inhabitants. It manifests as acute crises, with abdominal pain, nausea, vomiting, constipation, tachycardia and hypertension, insomnia, anxiety, depression, motor coordination problems and even hallucinations. 

Porphyrias are diseases that affect the production of heme, a molecule with multiple and varied functions in cells, such as energy production. In the liver, heme is an essential element that manages and eliminates toxic waste generated by the body or received from the outside.

The disease arises from a mutation in a gene responsible for regulating the production of heme, which can cause metabolic blockages in the liver that accumulate toxic substances that travel through the blood to the nervous system. This can be produced by some medications, strict diets, viral infections or prolonged stress. However, the main factor is the female hormones associated with the menstrual cycle, making young women the most vulnerable group.

There is currently no specific treatment for this disease, which can sometimes cause significant neurological damage and even require liver and/or kidney transplants.