Orphanet Journal of Rare Diseases (2021-02-01)

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

  • Juan Buendía-Martínez,
  • María Barreda-Sánchez,
  • Lidya Rodríguez-Peña,
  • María Juliana Ballesta-Martínez,
  • Vanesa López-González,
  • María José Sánchez-Soler,
  • Ana Teresa Serrano-Antón,
  • María Elena Pérez-Tomás,
  • Remedios Gil-Ferrer,
  • Francisco Avilés-Plaza,
  • Guillermo Glover-López,
  • Carmen Carazo-Díaz,
  • Encarna Guillén-Navarro

Journal volume & issue
Vol. 16, no. 1
pp. 1 – 8


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Abstract Background 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. Results The earliest long-term clinical condition associated with SA-AIP was chronic kidney disease. Chronic symptoms were reported in 85.2 % of SA-AIP and 46.4 % of L-AIP patients. Unspecific abdominal pain, fatigue, muscle pain and insomnia were significantly more frequent in SA-AIP than in L-AIP patients. The EQ-5D-5L index was lower in SA-AIP (0.809 vs. 0.926, p = 0.0497), and the impact of “pain”, “anxiety-depression” and “mobility” was more intense in the EQ-5D-5L domains in SA-AIP than in L-AIP subjects and the general Spanish population. Conclusions AIP remains a chronically symptomatic disease that adversely affects health and quality of life, even in patients with low rate of acute attacks. We suggest a regular monitoring of patients with symptomatic AIP regardless of their attack rate or the time since their last attack, with proper pain management and careful attention to kidney function.