Intermittent acute porphyria: on the purpose of a case. Porfiria aguda intermitente: a propósito de un caso

Abstract

Porphyrias are inherited metabolic diseases due to partial or total enzyme deficiency in the heme synthesis pathway, which leads to the accumulation of porphyrins and toxic precursors in the tissues. The clinical presentation is heterogeneous depending on the affected enzyme, with increased excretion of porphyrins and/or precursors, which allows diagnosis. In the case of acute intermittent porphyria, a deficit of porphobilinogen deaminase is established. Treatment is based on adequate metabolic intake and supply of human Hemin.  The case of a patient of 17 years of age is described, with recurrent gastrointestinal symptoms, severe hydroelectrolytic imbalance during her hospitalization, with a change in the color of urine due to sun exposure and increased porphyrins in urine, for which it is established metabolic support and later directed treatment with human hemin due to the high suspicion, obtaining several days later a report of elevated levels of Delta Amino Levulinic Acid. It is concluded that despite being a diagnosis of exclusion, it should be considered as differential, especially in the event of recurrence of symptoms, with no common etiology identified, and the rapid initiation of general measures and directed management with human hemin is necessary.