porfyria

Porphyria is a group of rare genetic disorders that affect the body's ability to make heme, a vital component of hemoglobin. Heme is an iron-containing molecule that carries oxygen in the blood and is also found in myoglobin and cytochromes, which have various roles in the body.

The underlying cause of porphyria is a deficiency in one of the enzymes involved in the heme synthesis pathway. This deficiency leads to the accumulation of porphyrin precursors, which can be toxic to the nervous system and skin. There are different types of porphyria, each caused by a defect in a different enzyme.

Symptoms vary widely depending on the specific type of porphyria and can include abdominal pain, neurological problems like paralysis and mental disturbances, and skin reactions such as blistering, increased sensitivity to sunlight, and excessive hair growth. Some types are acute and manifest as sudden, severe attacks, while others are chronic and present with persistent symptoms.

Diagnosis typically involves blood, urine, and stool tests to measure levels of porphyrins and their precursors. Treatment strategies are aimed at managing symptoms and preventing attacks, and may include avoiding triggers like certain medications, infections, and alcohol. In some cases, therapies like heme infusions or gene therapy are used.