porfyyrisiä

Porphyria is a group of rare genetic disorders that affect the heme biosynthesis pathway. Heme is a component of hemoglobin, which carries oxygen in the blood. In porphyria, a deficiency in specific enzymes leads to the accumulation of porphyrin precursors in the body. These accumulated substances can be toxic, particularly to the nervous system and skin.

There are several types of porphyria, categorized based on which enzyme is deficient and which tissues are primarily affected. Acute porphyrias are characterized by neurological symptoms, including severe abdominal pain, vomiting, and psychiatric disturbances. These attacks can be triggered by certain medications, alcohol, fasting, or stress. Neurological damage can be permanent if left untreated.

Cutaneous porphyrias primarily manifest as skin problems, such as blistering, increased sensitivity to sunlight (photosensitivity), and fragility of the skin, leading to scarring. These symptoms can vary in severity.

Diagnosis typically involves blood, urine, and stool tests to measure levels of porphyrins and their precursors. Treatment strategies depend on the specific type of porphyria and the severity of symptoms. Management often involves avoiding triggers, dietary modifications, and in some cases, medications like hemin or gene therapy. Lifestyle adjustments and supportive care are crucial for individuals living with porphyria.