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[Acute intermittent porphyria: Long-term follow up of 35 patients]
Carmen Herrero1, Celia Badenas2, Paula Aguilera1
1Unidad de Porfirias, Grupo de Enfermedades Minoritarias del Adulto, Hospital Clinic, Barcelona, España; Servei de Dermatologia, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, España.
Background And Objectives:
Acute intermittent porphyria (AIP) is a rare disease that results from a deficiency of porphobilinogen deaminase, the third enzyme of the heme biosynthetic pathway. AIP carriers are at risk of presenting acute neurovisceral attacks associated with overproduction of heme-precursors in the liver.
Patients And Method:
We report the characteristics of all AIP patients attended in the Hospital Clinic of Barcelona during the years 1993-2013 and their long-term follow-up.
Results:
Thirty-five AIP patients (33 women, 2 men) experienced acute attacks. Treatment with hemin resolved the acute neurovisceral crisis in all cases. Nine patients presented peripheral neuropathy and persistent sequelae. Long-term follow-up allowed classifying the patients into groups: A, patients with acute symptoms during 1-2 years and subsequent long-lasting clinical remission (n=24) or a few sporadic crises (n=3), and B, patients with recurrent attacks requiring chronic administration of hemin (n=8). In a majority of the patients of group A, the urinary excretion of heme-precursors decreased gradually over time. However, the chronic hemin regime did not induce a decline of urinary heme-precursors in the patients of group B. Additionally, we identified 44 asymptomatic AIP carriers, most (70.5%) with normal values of heme-precursors in urine.
Conclusions:
A majority of the AIP patients of our series achieved a long-lasting clinical remission. A minority (23%) presented recurrent attacks that required chronic hemin infusions without feasible interruption and without long-term biochemical remission. The type of mutation within the porphobilinogen deaminase gene and also life-style related factors may determine remission time-course.
Insights
Most patients with acute intermittent porphyria (AIP) achieve long-term remission with hemin treatment. However, a subset experiences recurrent attacks requiring chronic hemin infusions, highlighting the need for personalized management strategies for this rare genetic disease.
Area of Science:
- Biochemistry
- Genetics
- Internal Medicine
Context:
- Acute intermittent porphyria (AIP) is a rare genetic disorder caused by a deficiency in porphobilinogen deaminase, leading to the overproduction of heme precursors.
- AIP patients are susceptible to acute neurovisceral attacks, posing significant health risks.
Purpose:
- To characterize the clinical presentation and long-term outcomes of AIP patients.
- To evaluate the efficacy of hemin treatment in managing acute attacks and recurrent episodes.
- To identify factors influencing disease progression and remission in AIP.
Summary:
- This study followed 35 AIP patients, noting that hemin treatment effectively resolved acute crises, though 9 experienced persistent neuropathy.
- Patients were categorized into Group A (long-lasting remission or sporadic crises) and Group B (recurrent attacks requiring chronic hemin).
- While Group A patients often showed decreased heme-precursor excretion, Group B patients on chronic hemin did not achieve biochemical remission.
Impact:
- A majority of AIP patients achieved long-lasting remission, demonstrating the potential for effective management.
- A minority of patients (23%) require continuous hemin infusions, underscoring the heterogeneity of AIP and the challenges in achieving complete biochemical remission.
- Genetic mutations and lifestyle factors may influence the course of AIP and the likelihood of achieving remission.
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