Porfirias agudas: enfoque diagnóstico y terapéutico

The acute porphyrias are rare congenital disorders due to alterations in the enzymes of the haem biosynthesis. These enzymopathies can be autosomal dominant in character, such as, acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and autosomal recessive character (ALA dehydratase deficiency porphyria). Porphyrias have traditionally been classified as hepatic or erythropoietic depending on the primary site of overproduction. The clinical importance of these types of diseases in emergency department and intensive care units lies mainly in the so-called acute porphyria attack, mainly the acute attack of acute intermittent porphyria. Acute intermittent porphyria is characterised by a series of signs and symptoms that are not specific to this disease, with acute abdominal pain still being the main symptom of presentation. We should be aware of the precipitating factors of acute attacks due to their high morbidity and mortality. Making a quick and timely diagnosis is of vital importance, using qualitative and quantitative tests such as PBG (Porphobilinogen) and ALA (aminolevulinic acid). The treatment is mainly based on avoid precipitating factors, immediately starting intravenous therapy with derived haematin products (Normosang®, Orphan Europe SARL, Puteaux, France), and in North America as lyophilised haematin (Panhematin®, Ovation Pharmaceuticals Inc., Deerfield, IL, USA), and the management of complications with different drugs approved for their treatment. The prognosis is good if the condition is diagnosed early and treated aggressively.