Routine ER screenings may improve acute porphyria diagnosis

Program called first 'multicenter prospective screening project' for porphyria in ER setting

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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A screening program at emergency departments may help to more efficiently diagnose acute forms of porphyria, according to a recent study.

“Screening for [acute porphyrias] in the [emergency department] is feasible and should be considered in all [emergency department] patients with (especially recurrent) abdominal pain of unclear origin,” the researchers wrote in “Detect Acute Porphyrias in Emergency Departments (DePorED) – a pilot study,” which was published in the Orphanet Journal of Rare Diseases.

Acute porphyrias include four types of porphyria that are marked by symptoms that occur in sudden attacks. These attacks usually don’t start until after puberty and are often severe enough to require a hospital stay.

People having a first attack of acute porphyria are likely to end up going to an emergency department to seek care. Diagnosing acute porphyria is fairly straightforward, but since typical porphyria symptoms like abdominal pain occur in many other diseases, clinicians may not think to conduct these tests. As a result, patients often encounter long diagnostic delays, during which they aren’t receiving optimal treatment.

Scientists in Germany developed a program to improve the efficiency of porphyria diagnoses at emergency departments. Three tertiary care hospitals participated in a pilot test of the program, which ran from 2019-2021. The program ended earlier than planned due to a strain on resources caused by the COVID-19 pandemic.

The core part of the program entailed collecting blood and urine samples from all patients who went to emergency departments with severe abdominal pain that persisted for several hours and the samples were tested for porphyria at a specialty lab. As part of the program, clinicians at emergency departments were trained to recognize acute porphyrias.

The researchers called the program the “first multicenter prospective screening project for [acute porphyrias] in a real life [emergency department] setting,” to the best of their knowledge.

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The pilot study included 68 people — 36 women, 32 men; mean age, 39 — who visited emergency departments with severe, long-lasting abdominal pain. In all cases, laboratory tests were negative for porphyria, which the researchers said was expected given the study’s small size.

Nonetheless, data suggested the screening procedure was feasible. There were no substantial issues with testing or analyzing the samples according to the established procedure.

“Rapid spot urine sampling and dispatch of darkened vials for plasma and urine analysis by one of two certified German porphyria laboratories were shown to be feasible even in a busy [emergency department] setting,” the researchers wrote, adding the program can be expanded to more emergency departments to facilitate more timely diagnoses of porphyria. “A follow-up study including more [emergency departments] in Germany with adapted inclusion criteria and newly defined and extended goals is already in process of planning.”

A similar infrastructure could also be implemented to improve diagnoses for other rare diseases, they said.

Although the researchers didn’t formally assess clinicians’ impressions of the program, they noted emergency department physicians and nurses generally reported being more aware of acute porphyria as a diagnosis to consider.

“An important take home point is, that structured and brief summaries of symptoms, complications and possible screening raise awareness regarding rare diseases even in a busy [emergency department],” they said.