porfírias

Porphyrias are a group of rare genetic disorders that affect the heme biosynthesis pathway. Heme is a vital component of hemoglobin, which carries oxygen in red blood cells, and cytochromes, which are involved in various metabolic processes. In porphyrias, a specific enzyme in the heme synthesis pathway is deficient, leading to the buildup of porphyrin precursors or porphyrins themselves. These accumulating substances can be toxic and cause a range of symptoms depending on the specific type of porphyria and which part of the pathway is affected.

The symptoms of porphyria can vary widely. Some types primarily affect the nervous system, causing neurological and psychiatric symptoms such as abdominal pain, muscle weakness, paralysis, anxiety, and hallucinations. These are often referred to as acute porphyrias. Other types, known as cutaneous porphyrias, lead to skin problems, including increased sensitivity to sunlight (photosensitivity), blistering, and scarring. Some individuals may experience a combination of neurological and cutaneous symptoms.

Diagnosis of porphyria typically involves blood, urine, and stool tests to measure the levels of porphyrins and their precursors. Genetic testing can also confirm the specific type of porphyria. Treatment strategies depend on the type of porphyria and the severity of symptoms. For acute porphyrias, treatment focuses on managing acute attacks with medications like glucose or hemin, and avoiding trigger factors such as certain drugs, alcohol, and fasting. For cutaneous porphyrias, management involves protecting the skin from sunlight, wound care, and sometimes iron chelation therapy. There is currently no cure for most porphyrias, but management can significantly improve quality of life for affected individuals.