Detect Acute Porphyrias in Emergency Departments (DePorED) - a pilot study.

ABSTRACT:

Background

Acute porphyrias (APs) are a group of rare metabolic diseases related to a disturbed heme biosynthesis. Symptoms may first occur as life threatening attacks, comprising abdominal pain and/or variable neuro-psychiatric symptoms, thus leading to presentation in emergency departments (ED) first. Due to the low prevalence, diagnosis of AP is often missed, even after readmission to the ED. Therefore, strategies are needed to consider APs in ED patients with unexplained abdominal pain, especially since early and adequate treatment will avoid an unfavorable clinical course. Aim of this prospective study was to investigate the prevalence of APs in ED patients and thus, addressing feasibility of screening for rare diseases, such as APs in the real life setting.

Methods

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SUBMITTER: Diehl-Wiesenecker E 

PROVIDER: S-EPMC10258746 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature