Guidelines for the management of acute porphyria: recommendations from the International Porphyria Network

Area of Science:

• Biochemistry
• Genetics
• Internal Medicine

Background:

• Autosomal dominant acute porphyrias are rare inherited disorders of heme biosynthesis.
• Characterized by neurotoxic porphyrin precursor accumulation, leading to severe abdominal pain and neuropsychiatric symptoms.
• Disease severity varies from asymptomatic cases to life-threatening recurrent attacks.

Purpose of the Study:

• To develop evidence-based clinical practice guidelines for acute porphyrias.
• To address attack prevention, management, long-term follow-up, and cancer surveillance.
• To promote safe, consistent care and improved outcomes globally.

Main Methods:

• Convened an international expert panel of 34 specialists from 17 countries.
• Utilized the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) framework.
• Conducted online meetings between 2023-2025 to develop recommendations.

Main Results:

• Developed 15 evidence-based recommendations for acute porphyria management.
• Recommendations cover attack prevention, sporadic/recurrent attack management, follow-up, liver cancer surveillance, and family screening.
• Guidelines acknowledge global resource variations and access to treatments.

Conclusions:

• The guidelines provide a framework for safe and consistent clinical care for acute porphyrias.
• Aims to improve patient outcomes by standardizing management strategies.
• Highlights areas for future research in acute porphyria.