Acute intermittent porphyria in a 23-year-old man: case report

Abstract

Introduction: Porphyrias are metabolic disorders caused by enzymatic alterations in the biosynthesis of the heme group of heme proteins. The clinical spectrum of porphyrias is associated with the location of the damage in the heme formation chain, which can range from neurovisceral manifestations to cutaneous alterations related to photosensitivity. The diagnosis of this pathology can be difficult since it is a rare disease and the symptoms are nonspecific. Objectives: The present study reports the diagnosis steps and clinical suspicion of a case of acute intermittent porphyria. Case Report: A 23-years-old male patient initially presented with nonspecific abdominal pain to the Emergency Room of Hospital João XXIII (Belo Horizonte/MG). The diagnostic investigation became more directed because of the positive family history for porphyria; until this information was provided, approaching the case was challenging. Diagnostic accuracy is essential considering the risk of using medications commonly used in the Emergency Room and which are aggravating for porphyria. The case was managed with symptom support and caloric intake until the medication (hematina) was acquired through judicialization. Conclusion: Acute hepatic porphyrias are a group of rare diseases with severe and nonspecific manifestations. However, patients with unexplained abdominal pain, mainly associated with neuropsychiatric symptoms and positive family history, should be screened for urinary porphyrins because recognizing the disease is essential, and hematin therapy should be promptly introduced.

Keywords

• acute intermittent porphyria
• acute abdominal pain
• hematin
• δ-aminolevulinic acid
• porphobilinogen