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Abdominal pain, limb discomfort, and confusion – Have you heard of porphyria?
Porphyria is a rare, inherited disease characterized by disturbances in the formation of hemoglobin, the blood pigment. The name of the disease derives from the Greek word “porphyreos,” which refers to the purplish-red urine that is one of its most characteristic symptoms. In Hungary, approximately 150 people live with a porphyria diagnosis, but this number is likely higher as the disease often remains hidden. There are two main types of porphyrias: acute and chronic forms, which present with different clinical manifestations. Characteristics of Porphyria Porphyria involves a dysfunction in the enzymes necessary for the production of hemoglobin, leading to the accumulation of porphyrins and their precursors in the body, which…