Acute intermittent porphyria--diagnostic and treatment traps.

Abstract

Acute intermittent porphyria (AIP) is a rare metabolic disease defined by mutations coding the deaminaze enzyme of porphobilinogen (PBGD). Porphyrias are somewhat misdiagnosed as a consequence of light symptoms in patients. Acute forms of porphyria can be life-threatening, so a correct diagnosis and an accurate treatment are highly important. The authors presented the case of a 38-years-old patient admitted for persistent abdominal pain that previously presented two generalized convulsive seizures. The diagnosis of AIP was established by the raised concentration of urinary porphyrins. Despite treatment with carbohydrates and hemines, the clinical picture of the patient worsened, with tetraplegia and severe respiratory failure. The patient died seven weeks after the initial presentation of the disease.