What is Porphyria?
The first cases of porphyria were described in 1874 by the scientist Schultz. The patient from early childhood had an increased sensitivity to solar radiation, an enlarged spleen, and red urine. A few years later, patients with signs of polyneuritis, mental disorders, abdominal pain, and red or pink urine were described. In some patients, an exacerbation of the disease occurred after taking sleeping pills, but it happened without any medications.
The disease was initially called hematoporphyria or hematoporphyrinuria. It was further established that hematoporphyrin never forms in the human body. Substances excreted in urine and feces for various types of porphyria are not hematoporphyrin, but uroporphyrin, coproporphyria, protoporphyrin and their predecessors. The term “hematoporphyrin” is not currently used.
Causes of Porphyria
Porphyria is a group of hereditary diseases or diseases with a hereditary predisposition with an increase in the content of porphyrins or their precursors, which leads to a number of different clinical signs in different types of porphyria. Porphyria should not include acquired diseases and poisonings with a large number of porphyrins in the urine (porphyrinuria) or in red blood cells (porphyrinemia).
Pathogenesis during Porphyria
Normally, the majority of porphyrins are synthesized in the bone marrow and liver. In the bone marrow, they are used mainly for the formation of hemoglobin, in the liver they are used for the formation of cytochromes, catalase, peroxidase and other enzymes that include heme. Porphyrins are synthesized in all cells of the body. This is necessary for the synthesis of cytochromes, but heme is synthesized in other organs many times less than in bone marrow and liver. In this regard, impaired porphyrin synthesis is possible both in bone marrow erythrokaryocytes and in the liver. All porphyria are divided into erythropoietic and hepatic.
Symptoms of Porphyria
- Erythropoietic porphyria:
– erythropoietic urophorphyria;
– erythropoietic protoporphyria;
– erythropoietic coproporphyria.
- Liver porphyries:
– acute intermittent porphyria;
– hereditary hepatic coproporphyria;
– variegate porphyria;
– urocoproporphyria (late cutaneous porphyria).