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Acute intermittent porphyria: biochemical and clinical analysis in the Argentinean population
A De Siervi1, M V Rossetti, V E Parera
1Research Fellows at the CONICET, Centro de Investigaciones sobre Porfirinas y Porfirias, CONICET, University of Buenos Aires, Buenos Aires, Argentina.
Insights
Acute intermittent porphyria (AIP), a common hepatic porphyria, affects approximately 1 in 125,000 in Argentina, predominantly women. Precipitating factors include drugs, anesthetics, and infections, with severe abdominal pain as the primary symptom.
Area of Science:
- Biochemistry
- Genetics
- Epidemiology
Background:
- Acute intermittent porphyria (AIP) is the most prevalent form of hepatic acute porphyria.
- Understanding AIP's epidemiological and clinical characteristics in diverse populations is crucial for effective management.
Purpose of the Study:
- To analyze the biochemical and clinical data of Argentinean families with Acute Intermittent Porphyria (AIP).
- To determine the prevalence, risk factors, and clinical presentation of AIP in the Argentinean population.
Main Methods:
- Retrospective analysis of biochemical data from Argentinean AIP families.
- Review of clinical records for symptomatic AIP patients.
Main Results:
- AIP prevalence in Argentina is approximately 1:125,000, with a 7:3 female-to-male ratio.
- Latent carriers constitute about 60% of the studied population.
- Key triggers for acute attacks include therapeutic drugs (25%), anesthetics (25%), and infections (20%).
- Severe abdominal pain is the universal initial symptom (100%), often with constipation, anorexia, and tachycardia.
- A high recurrence rate of acute attacks (81%) and a 15% mortality rate during attacks were observed.
Conclusions:
- AIP exhibits distinct epidemiological and clinical features in the Argentinean population.
- Identifying precipitating factors and early symptoms is vital for reducing mortality and morbidity associated with AIP acute attacks.
Abstract:
Acute intermittent porphyria (AIP) is the most common type of hepatic acute porphyria. In this work, we have analyzed the biochemical data of all Argentinean AIP families studied in the Porphyrins and Porphyrias Research Centre (CIPYP). We have shown that: (i) the prevalence for this population is about 1:125,000; (ii) the disease is more frequent in women than in men (7:3); (iii) about 60% are latent carriers; (iv) 15% of patients with symptomatic AIP died during an acute attack; (v) the most important precipitating factors of acute attacks in our population were the ingestion of therapeutic drugs (25%), anesthetics in surgical interventions (25%) and infections (20%); (vi) the initial symptom in Argentinean AIP individuals is severe abdominal pain (100%), and it is often accompanied by constipation (37%), anorexia (37%) and tachycardia (30%); and (vii) the percentage of recurrence of the acute attacks is high (81%).