Expert consensus statement on acute hepatic porphyria in Belgium

Area of Science:

• Biochemistry
• Genetics
• Internal Medicine

Background:

• Acute hepatic porphyrias (AHP) encompass four rare, severe diseases: 5-aminolevulinic acid (ALA) dehydratase deficiency porphyria (ADP), acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP).
• These conditions significantly impair patients' quality of life, often leading to debilitating attacks and chronic symptoms.
• A considerable unmet medical need exists due to the lack of pharmaceutical treatments that effectively prevent AHP attacks and manage chronic manifestations.

Purpose of the Study:

• To provide an expert consensus on the current state of AHP in Belgium.
• To consolidate information on AHP pathophysiology, clinical presentation, disease burden, and epidemiology within Belgium.
• To discuss existing treatments and propose an optimized organization of care for AHP patients in Belgium.

Main Methods:

• An advisory board meeting was held on January 24, 2020, involving Belgian European Porphyria Network (EPNet) centers and Alnylam Pharmaceuticals.
• Expert input was gathered on the state-of-the-art clinical practice for AHP in Belgium.
• An expert consensus statement was drafted collaboratively, coordinated by Belgian EPNet centers.

Main Results:

• Conservative estimates suggest 11-34 AHP patients in Belgium require treatment for recurrent attacks or chronic symptoms.
• The current lack of effective preventative pharmaceutical treatments highlights a significant unmet need.
• The consensus statement provides a comprehensive overview of AHP in the Belgian context.

Conclusions:

• There is a critical need for improved AHP management strategies in Belgium.
• The proposed organization of care aims to address the challenges faced by the limited AHP patient population.
• This consensus statement serves as a foundation for advancing AHP care and research in Belgium.