Preguntas PICO y metodología DELPHI para mejorar el manejo de los pacientes con porfiria hepática aguda

IF 2.3 4区医学 Q2 MEDICINE, GENERAL & INTERNAL Revista clinica espanola Pub Date : 2024-05-01 DOI:10.1016/j.rce.2024.04.003

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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改进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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来源期刊

Revista clinica espanola 医学-医学：内科

CiteScore

4.40

自引率

6.90%

发文量

审稿时长

28 days

期刊介绍： Revista Clínica Española published its first issue in 1940 and is the body of expression of the Spanish Society of Internal Medicine (SEMI). The journal fully endorses the goals of updating knowledge and facilitating the acquisition of key developments in internal medicine applied to clinical practice. Revista Clínica Española is subject to a thorough double blind review of the received articles written in Spanish or English. Nine issues are published each year, including mostly originals, reviews and consensus documents.