Clinical Challenges of Acute Porphyria in the Young Adult

Abstract

Porphyria is a metabolic disorder caused by a mutation in the heme biosynthetic pathway, with vague symptomatology and rare prevalence. A triad of hyponatremia, intermittent seizures, and abdominal pain should raise suspicion for porphyria. The diagnosis is based on increased blood porphobilinogen levels and genetic mutations. Treatment involves Dextrose-10 administration followed by hematin infusions as soon as possible. A maintenance dose of hematin is required in some cases. Here, we report a delayed diagnosis of acute intermittent porphyria (AIP) in an 18-year-old female, who first presented with severe anemia attributed to iron deficiency from menstrual blood loss. After discharge, she was readmitted with bilateral lower extremity and abdominal pain, hyponatremia, and seizure attributed to polypharmacy. During this second hospitalization, she was transferred to our hospital complaining of chest pain, shortness of breath, markedly decreased weakness, dysphagia, and hallucinations. After an extensive workup, she was diagnosed with AIP, and Dextrose-10 and hemin infusion were started. Our patient was found to have a missense mutation in the Hydroxymethylbilane synthase gene. She recovered after an extended ICU stay of 45 days and was discharged with a moderate improvement of weakness. Early diagnosis is necessary to prevent severe manifestations and long-term sequelae, such as axonal neuropathy, which occurred in the presented case.