ACUTE INTERMITTENT PORPHYRIA: DIAGNOSTIC DIFFICULTIES. TREATMENT WITH PLASMAPHERESIS

Abstract

Purpose: Acute intermittent porphyria (AIP) is a rare disorder caused by deficiency of the enzyme in the heme biosynthetic pathway, characterized by dysfunction neuroviscerais with serious consequences if not diagnosed early. This study reports a case in which it proves difficult diagnosis of AIP, as well as the use of plasmapheresis in the treatment of porphyritic crises. Case description: Female patient, 42 years old, with severe abdominal pain and diffuse, and major neurological impairment, ascending quadriparesis and quadriplegia, which suggested the diagnosis of Guillain-Barre hypothesis discarded after dosing urinary porphobilinogen with a positive result, a year and a half after the onset of symptoms. The prolonged use of oral contraceptives containing low-calorie diet may have triggered the crisis porphyritic. Late diagnosis was responsible for significant increase in the worsening of patient morbidity, which evolved with recurrent seizures, cardiopulmonary and psychiatric disorders. The patient was treated  with plasmapheresis  and glucose supply, as hematin or heme arginate, drugs of choice are unavailable in Brazil. Conclusion: The Acute Intermittent Porphyria is a condition of heterogeneous manifestations and requires a high suspicion for its diagnosis. It is necessary to carry out as soon as possible, considering the differential diagnosis of acute abdomen and Guillain-Barre, to reduce relapses as well as the chronic manifestations.