P1855 - A Perplexing Case of Abdominal Pain: Acute Intermittent Porphyria in a Young Hispanic Female

Andrew J. Ortega, DO¹, Sundar Cherukuri, DO¹, Jesus A. Guzman, MD¹, M. Ammar Kalas, MD¹, Hien Pham, DO¹, Alejandro Robles, MD², Ihsan Al Bayati, MD^1
1Texas Tech University Health Sciences Center at El Paso, El Paso, TX; ²Texas Tech University Health Sciences Center, El Paso, TX

Introduction: Acute intermittent porphyria (AIP) is a rare metabolic disorder characterized by deficiency in the enzyme porphobilinogen deaminase. Deficiency of this enzyme can result in the accumulation of porphyrin precursors in the body and depletion of heme from neuronal cells, contributing the pathogenesis of this entity. However, having a deficiency by itself is not sufficient to produce symptoms in most individuals. Additional elements are usually required to trigger the onset of symptoms, including infections, caloric deprivation, and use of certain medications/sex hormones. Clinical findings include abdominal pain, peripheral neuropathy, constipation, discoloration of urine, hyponatremia, and ileus. We report a case of AIP whose pre- and early hospitalization course instigated the onset of symptoms.

Case Description/Methods: A 22-year-old Hispanic woman presented to the emergency department with a “months-long” history of intermittent abdominal pain. Initially, her pain was mild and associated with menstrual periods. Over the past 1-week, it had progressed to become severe, diffuse, constant, and associated with constipation and decreased oral intake. Prior to her hospitalization, she was started on a combination oral contraceptive for the suspected diagnosis of endometriosis. Furthermore, within the past month she was treated with nitrofurantoin and trimethoprim/sulfamethoxazole for urinary tract infections. Physical examination revealed a mildly distended abdomen and diffuse/poorly localized pain. Metabolic profile was significant for hyponatremia (130 mmol/L). An abdominal CT scan showed ileus for which she was kept NPO. The patient’s pain persisted for several days, despite a CT with enterography showing resolution of the bowel dilation. A urine analysis noted a red discoloration to her urine. In the context of her unresolved pain and discolored urine, AIP was suspected. Initial testing revealed a urine porphobilinogen level of 99.92 mg/g creatinine (normal: < 0.22). Fractionation of porphyrins (urine and plasma) were consistent with AIP. She was treated with intravenous (IV) hematin and dextrose containing IV fluids for 3 days, drastically improving her symptoms. She was discharged home with outpatient follow-up.

Discussion: This is a unique case of AIP given the acute compounding/instigating factors and limited literature on AIP in Hispanics. Furthermore, it highlights the importance of obtaining a detailed medical history when approaching patients with unexplained abdominal pain.


Disclosures:
Andrew Ortega indicated no relevant financial relationships.
Sundar Cherukuri indicated no relevant financial relationships.
Jesus Guzman indicated no relevant financial relationships.
M. Ammar Kalas indicated no relevant financial relationships.
Hien Pham indicated no relevant financial relationships.
Alejandro Robles indicated no relevant financial relationships.
Ihsan Al Bayati indicated no relevant financial relationships.


Andrew J. Ortega, DO¹, Sundar Cherukuri, DO¹, Jesus A. Guzman, MD¹, M. Ammar Kalas, MD¹, Hien Pham, DO¹, Alejandro Robles, MD², Ihsan Al Bayati, MD¹. P1855 - A Perplexing Case of Abdominal Pain: Acute Intermittent Porphyria in a Young Hispanic Female, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.