• Francisco Javier Castelbón Fernández, María Barreda Sánchez, Elena Arranz Canales, María Encarnación Hernández Contreras, Isabel Solares, Montserrat Morales Conejo, Álvaro Muñoz Cuadrado, Araceli Casado Gómez, María Yébenes Cortés, and Encarna Guillén Navarro.
• Consulta de Porfirias, CSUR de errores congénitos del metabolismo, Servicio de Medicina Interna, Hospital Universitario 12 de Octubre, Madrid, Spain.
• Med Clin (Barc). 2024 Feb 9; 162 (3): 103111103-111.

BackgroundAcute hepatic porphyria (AHP) comprises a group of rare genetic diseases characterized by neurovisceral crises that are manifested by abdominal pain and neurological and/or psychological symptoms that interfere with the ability to lead a normal life. Our objective was to determine the burden of the disease in one year and the health-related quality of life (HRQoL) in patients with AHP.Results28 patients were analyzed. The mean age was 36.6±10.2 years, 89.3% were women, and the average number of crises was 1.9±1.5. The average annual cost per patient was €38,255.40. 80.2% of the costs was direct medical costs, 17.5% was associated with loss of productivity and 2.3% was direct non-medical costs. 85.9% of the total cost corresponded to the crises. The intercrisis period accounted for the remaining 14.1%. The global index of the EQ-5D-5L (HRQoL) was 0.75±0.24. The dimensions of pain/discomfort, anxiety/depression and daily activities were the most affected. Leisure, travel/vacations and household activities were the most affected daily activities. 53.6% of patients required a caregiver due to AHP. 92.9% did not present overload and 7.1% presented extreme overload.ConclusionsPatients with AHP are associated with a high economic impact and an affected HRQoL in the pain/discomfort dimension, with a negative impact on the performance of daily activities and a risk of psychiatric diseases.Copyright © 2023 Elsevier España, S.L.U. All rights reserved.

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