PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria

A. Riera-Mestre , J.S. García Morillo , J. Castelbón Fernández , M.E. Hernández-Contreras , P. Aguilera Peiró , J. Jacob , F. Martínez Valle , E. Guillén-Navarro , M. Morales-Conejo
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Abstract

Background

Acute hepatic porphyrias (AHPs) are a group of rare diseases that encompasses acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and 5-aminolaevulinic acid dehydratase deficiency porphyria. Symptoms of AHP are nonspecific which, together with its low prevalence, difficult the diagnosis and follow-up of these patients.

Material and methods

This project used DELPHI methodology to answer PICO questions related to management of patients with AHPs. The objective was to reach a consensus among multidisciplinary porhyria experts providing answers to those PICO questions for improving diagnosis and follow-up of patients with AHP.

Results

Ten PICO questions were defined and grouped in four domains: 1. Biochemical diagnosis of patients with AHP. 2. Molecular tests for patients with AHP. 3. Follow-up of patients with AHP. 4. Screening for long-term complications of patients with AHP.

Conclusions

PICO questions and DELPHI methodology have provided a consensus on relevant and controversial issues for improving the management of patients with AHP.

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改善急性肝性卟啉症患者管理的 PICO 问题和 DELPHI 方法。
背景急性肝卟啉症(AHPs)是一组罕见疾病,包括急性间歇性卟啉症、变异性卟啉症、遗传性共卟啉症和5-氨基乙酰丙酸脱水酶缺乏性卟啉症。AHP的症状没有特异性,加上发病率低,给这些患者的诊断和随访带来了困难。材料和方法该项目采用DELPHI方法回答与AHP患者管理相关的PICO问题。目的是在多学科孔隙疾病专家之间达成共识,为改善 AHP 患者的诊断和随访提供这些 PICO 问题的答案。结果确定了十个 PICO 问题,并将其分为四个领域:1.AHP 患者的生化诊断。2.AHP 患者的分子检测。3.AHP患者的随访。4.结论PICO问题和DELPHI方法就改善AHP患者管理的相关和有争议的问题达成了共识。
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