Mysterious disease porphyria: challenge of diagnosis. Analysis of the clinical case of porphyric polyneuropathy

Abstract

Brief overview represents the description of the relationship between the clinical picture of porphyria and the description of vampires in the literature. Porphyria is a group of hereditary diseases caused by disorders of heme synthesis, with an increase in the level of its precursors in the blood and urine. The most characteristic description of vampires in the literature are the clinical manifestations of congenital erythropoietic porphyria. The most frequent and severe form of porphyria is an acute intermittent porphyria. The triad of seizures, acute abdominal pain and hyponatremia in young women are clear evidence of the disease. During an acute attack most patients can experience various psychiatric disorders. The dangerous complication of porphyria is the development of motor axonal or axonal‑demyelinating polyneuropathy. A definite marker of acute porphyria attacks is the urine excretion of various shades of red color. The actual mechanisms of damage to nervous system tissue are poorly understood, focal lesion of the brain in porphyria is not specific. Laboratory confirmation of porphyria is elevated urinary excretion of aminolevulinic acid, porphobilinogen, uroporphyrin and coproporphyrin. In the article the clinical presentation of a patient with porphyric polyneuropathy is described with the following one‑year dynamic observation. Management of acute attack with intravenous heme, increased glucose supplementation in the acute period of the disease, followed by physical rehabilitation of the patient in the recovery period, will help restore lost functions. However, the main idea is to explain to a patient what drugs are porphyrinogenic and necessity to change his life style.