Abstract
BackgroundAcute 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.ResultsThe 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.ConclusionsAIP 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.
Highlights
Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks
Of the 55 individuals included with confirmed hydroxymethylbilane synthase (HMBS) pathogenic variants, 80 % carried the founder mutation NM_000190.3: c.669_698del30 p.(Glu223_Leu232)
The findings show that long-term clinical conditions and chronic symptoms more frequently occur in sporadic AIP (SA-AIP) patients compared with latent AIP (L-AIP)
Summary
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. Fifty-five participants, SA-AIP (< 4 attacks/year) and L-AIP patients with a prevalent founder mutation from Spain were included. Most HMBS pathogenic variants are private, founder effects have been reported [2]. The clinical course of AIP is characterized by acute neurovisceral attacks involving the autonomic, peripheral and central nervous systems, with intervening non-attack periods [5, 6]. After recovery from a neurovisceral attack, the levels of urinary ALA (U-ALA) and U-PBG may remain high for long periods of time [7,8,9]
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