Porphyria in an Adolescent Girl: A Clinician’s Quagmire

Abstract

Abstract Background: Porphyrias are a group of potentially life-threatening, metabolic disorders resulting from defective heme biosynthesis. They have a myriad of multisystem manifestations and pose a diagnostic and management challenge. Acute intermittent porphyria (AIP) is a severe and the most common form of porphyria. Awareness of this uncommon entity and a high index of suspicion are warranted for a successful outcome. Clinical Description: A 12-year-old girl was referred to us with a history of severe pain in the abdomen and generalized tonic-clonic seizures. She had episodic abdominal pain for the past 6 months associated with abnormal menstrual cycles. She had acutely raised blood pressure. She had urine was orange-pink in color, which led us to suspect a diagnosis of AIP. A urine examination confirmed the presence of porphobilinogen. On genetic testing, a pathogenic missense variation (c.518G>A) in exon 9 of the hydroxymethylbilane synthase (+) gene, which is autosomal dominant, was detected, which confirmed the diagnosis. Management: Seizures were treated with lorazepam and levetiracetam. Hypertension was managed with labetalol infusion followed by amlodipine. Tramadol was given for severe pain abdomen. Persistent severe hyponatremia (serum sodium 104 mEq/L) was initially managed with normal saline 3% saline and later, with fluids restriction. Conclusion: The diagnosis of AIP should be suspected, especially in pubertal girls who present more than once with persistent symptoms of acute abdomen, vomiting, hypertension, or symptoms linked to the menstrual cycle.