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Acute Intermittent Porphyria Described in Teen Girl

Clinical picture seemed consistent with constipation, but hyponatremia did not fit with diagnosis

girl being examined

TUESDAY, Dec. 5, 2017 (HealthDay News) -- A case of a 16-year-old presenting to the emergency department with acute intermittent porphyria (AIP) is described in a case report published online Dec. 5 in Pediatrics.

Grace Hunter, from Stanford University School of Medicine in California, and colleagues describe the case of a 16-year-old girl who presented to the emergency department with one week of severe, diffuse abdominal pain and constipation, and nonbloody, nonbilious emesis.

The authors note that the patient described severe diffuse abdominal pain on arrival to the emergency department. Her abdomen was tender to palpation throughout, with no rebound tenderness or peritoneal signs. Normal results were seen in the remainder of her physical examination. She was found to have hyponatremia, with a sodium level of 122; no neurologic sequelae were reported. Moderate constipation was identified on abdominal radiograph; even after a bowel cleanout the abdominal pain persisted. A quantitative urine porphobilinogen test came back elevated, suggestive of AIP. Several stressors were identified, including a recent suicide in the family and a history of disordered eating and anxiety. The disease was caught in the first abdominal crisis; the patient reports only one brief subsequent hospitalization for an AIP flare since initial diagnosis.

"With early recognition, education, and adequate outpatient support, however, it is possible to control AIP symptoms and prevent frequent hospitalizations, even in this challenging adolescent population," the authors write.

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