Servicio de Medicina Interna, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Instituto de Investigación Biomédica de Bellvitge (IDIBELL), Hospitalet de Llobregat, Barcelona, Spain; Departamento de Ciencias Clínicas, Facultad de Medicina y Ciencias de la Salud, Universitat de Barcelona, Barcelona, Spain.
Unidad de Enfermedades Autoinmunes y Minoritarias del Adulto, CSUR de Errores Innatos del Metabolismo del Adulto, Servicio de Medicina Interna, Hospital Universitario Virgen del Rocio, Sevilla, Spain.
Rev Clin Esp (Barc). 2024 May;224(5):272-280. doi: 10.1016/j.rceng.2024.04.010. Epub 2024 Apr 18.
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.
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.
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.
PICO questions and DELPHI methodology have provided a consensus on relevant and controversial issues for improving the management of patients with AHP.
急性肝性卟啉病（AHP）是一组罕见疾病，包括急性间歇性卟啉病、变异性卟啉病、遗传性粪卟啉病和 5-氨基酮戊酸脱水酶缺乏性卟啉病。AHP 的症状是非特异性的，再加上其发病率低，使得这些患者的诊断和随访变得困难。
本项目使用德尔菲法（Delphi method）回答与 AHP 患者管理相关的 PICO 问题。目的是在多学科卟啉病专家中达成共识，为 PICO 问题提供答案，以改善 AHP 患者的诊断和随访。
定义了 10 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. AHP 患者长期并发症的筛查。
PICO 问题和德尔菲法为改善 AHP 患者的管理提供了共识，解决了相关和有争议的问题。
