TY - JOUR AU - Buendía-Martínez, Juan AU - Barreda-Sánchez, María AU - Rodríguez-Peña, Lidya AU - Ballesta-Martínez, María Juliana AU - López-González, Vanesa AU - Sánchez-Soler, María José AU - Serrano-Antón, Ana Teresa AU - Pérez-Tomás, María Elena AU - Gil-Ferrer, Remedios AU - Avilés-Plaza, Francisco AU - Glover-López, Guillermo AU - Carazo-Díaz, Carmen AU - Guillén-Navarro, Encarna PY - 2021 DA - 2021/02/27 TI - Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients JO - Orphanet Journal of Rare Diseases SP - 106 VL - 16 IS - 1 AB - Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during non-attack periods but mainly in patients with recurrent attacks. Our aim was to investigate these aspects in sporadic AIP (SA-AIP) and latent AIP (L-AIP) patients. Fifty-five participants, 27 SA-AIP (< 4 attacks/year) and 28 L-AIP patients with a prevalent founder mutation from Spain were included. Medical records were reviewed, and individual interviews, physical examinations, biochemical analyses, and abdominal ultrasound scans were conducted. HRQoL was assessed through an EQ-5D-5L questionnaire. A comparative study was made between SA-AIP and L-AIP patients. SN - 1750-1172 UR - https://doi.org/10.1186/s13023-021-01742-3 DO - 10.1186/s13023-021-01742-3 ID - Buendía-Martínez2021 ER -