ACUTE INTERMITTENT PORPHYRIA: THE CAUSE OF NEUROVISCERAL PAIN ATTACK

  • Monika Šataitė LSMU MA Medicinos fakultetas
  • Vitalija Petrenkienė LSMU MA Gastroenterologijos klinika
Keywords: acute intermittent porphyria, acute hepatic porphyrias, porphyrins, heme

Abstract

Acute intermittent porphyria is a rare autosomal dominant disease caused by a deficiency of the third enzyme in the heme synthesis pathway. This results in the accumulation of neurotoxic metabolites, porphyrins and their precursors, in the body. Clinical manifestations are usually diverse and non-specific, but the disease is characterized by neurovisceral episodes that cause excruciating abdominal pain accompanied by other gastrointestinal symptoms and neuropathies, recurrent episodes can also lead to a number of chronic injuries. Diagnosis is based on the detection of increased levels of porphyrin precursors in the urine. Heme and glucose are specific treatments for acute seizures in combination with symptomatic treatment. It is important to avoid porphyrinogenic factors and ensure adequate calorie and carbohydrate intake.

Published
2021-06-18