A 30-Year-Old Woman With a Reported History of Porphyria

Author:
Ronald N. Rubin, MD—Series Editor

Citation:
Rubin RN. A 30-year-old woman with a reported history of porphyria. Consultant. 2019;59(10):308-310.

A 30-year-old woman presented to the emergency department (ED) with concern for abdominal pain, which she stated was due to her having an acute event related to her diagnosis of acute intermittent porphyria (AIP).

She said that she had been symptomatic for approximately 5 years, experiencing an attack every 1 to 2 months. She reported that the attacks are characterized by fatigue followed by progressively worsening abdominal pain with nausea and emesis. She reported moderate relief from opioids, especially morphine sulfate extended-release tablets.

She brought with her medical records in the form of laboratory test results from several hospitals where she had sought care for previous acute attacks; the results showed urine porphobilinogen levels between 3 and 8 mg/g creatinine (reference value, <2 mg/g creatinine). She also had several laboratory reports showing modestly elevated coproporphyrins.

Physical examination revealed an afebrile patient with pulse rate of 92 beats/min and a blood pressure of 130/84 mm Hg. Abdominal examination was positive for pain on any palpation accompanied by guarding, but with good bowel sounds present.

Results of a complete blood cell count were normal, including the white blood cell count and differential. Metabolic testing results (electrolytes and routine biochemistries) were also normal.