Porphyria, a rare hereditary disease: a clinical case

Porphyria is a group of diseases associated with a violation of pigment metabolism, in which hemeformation is disrupted, accompanied by the accumulation of porphyrins or their toxic precursors. The incidence of the disease is 7-12:100,000 people. Porphyrins build up and, as a result, many organs and systems of the body are affected. The variability of the clinical picture and poor knowledge of this pathology lead to delayed diagnosis. Consequently, these patients may remain without treatment and medical supervision for a long time.