What is it about?
Porphyrias are a group of rare disorders caused by enzyme defects in haem biosynthesis pathway. Acute intermittent porphyria is the most common hepatic porphyria. The disorder presents with severe neuropathic abdominal pain that can be accompanied by a wide range of gastrointestinal, psychiatric and neurological symptoms, making the diagnosis clarification very challenging. We report a case of a 16-year-old female patient who presented with acute abdominal pain, vomiting and marked hyponatremia, developed seizures and disorientation, and eventually required intensive care unit treatment to maintain breathing. Her symptoms were initially misinterpreted as a functional gastrointestinal disorder, thus delaying the needed specific treatment.
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Why is it important?
Acute intermittent porphyria (AIP) is a rare condition, and it would be useful for physicians to know its presentation, diagnosis and treatment. The case is instructive and valuable because it reminds them that the combination of abdominal pain and neurological symptoms should include AIP in the differential diagnosis not only to avoid unnecessary surgery such as nontherapeutic laparotomy but also to prevent the possibility of acute intermittent porphyria exacerbation using contraindicated drugs. This care report describes a fairly typical presentation that the main focus was to stress the effect of menstrual cycle on porphyria and that this condition is treatable.
Perspectives
Writing this article was a great pleasure as it has co-authors with whom I have had long standing collaborations. This article also lead to rare disease that must be considered in differential diagnosis of any acute abdominal pain, neurological and psychiatric disorders not only to avoid unnecessary surgery such as nontherapeutic laparotomy but also to prevent the possibility of acute intermittent porphyria exacerbation using contraindicated drugs. More than anything else, and if nothing else, I hope you find this article thought-provoking.
Dr. VALTER ROMÃO DE SOUZA JUNIOR
University of Glasgow
Read the Original
This page is a summary of: Effect of Menstrual Cycle on Acute Intermittent Porphyria, Child Neurology Open, January 2017, SAGE Publications,
DOI: 10.1177/2329048x17736170.
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