Neurological manifestations of acute intermittent porphyria: Case series and current review

Background: Porphyrias are a group of inherited metabolic disorders, resulting from the deficiency of specific enzyme in the hemebiosynthesis. Among these, acute intermittent porphyria (AIP) is the most common type with neuropsychiatric features encountered in the clinical practice. In this study, we describe the presentation of AIP in five different patients admitted in our hospital. Materials and Methods: We prospectively collected the data of five patients of AIP admitted in our department in the past 2 years and studied in detail the causes, precipitants, clinical presentation, diagnosis, and management of AIP. Results: All five cases were males in second to third decades of life having a history of prior gastrointestinal symptoms for variable period before presenting to us with neurological manifestations of which one had abdominal pain for 2 years and had undergone appendicectomy also. All patients had seizures and psychiatric manifestations. Four patients had axonal polyneuropathy and respiratory failure requiring prolonged ventilator support. One patient had a past and family history of AIP. Sepsis as a trigger is noted in two patients. All patients had positive urine test for porphobilinogen. All had autonomic dysfunction, hyponatremia, and three patients expired after prolonged intensive care unit stay of which two had status epilepticus. Two patients survived with complete recovery and are under regular follow-up. Conclusion: Porphyria screening should be done in all patients presenting with unexplained motor neuropathy. Avoidance of triggers, early suspicion of the acute attack, and starting treatment immediately will prevent the complications and thus reduce morbidity and mortality due to the acute attack.