Carmen Herrero1, Celia Badenas2, Paula Aguilera1, Jordi To-Figueras3. 1. Unidad 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. 2. Unidad de Porfirias, Grupo de Enfermedades Minoritarias del Adulto, Hospital Clinic, Barcelona, España; Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, España. 3. Unidad de Porfirias, Grupo de Enfermedades Minoritarias del Adulto, Hospital Clinic, Barcelona, España; Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, España. Electronic address: JTO@clinic.ub.es.
Abstract
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.
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.
Authors: María Barreda-Sánchez; Juan Buendía-Martínez; Guillermo Glover-López; Carmen Carazo-Díaz; María Juliana Ballesta-Martínez; Vanesa López-González; María José Sánchez-Soler; Lidya Rodriguez-Peña; Ana Teresa Serrano-Antón; Remedios Gil-Ferrer; Maria Del Carmen Martínez-Romero; Pablo Carbonell-Meseguer; Encarna Guillén-Navarro Journal: Orphanet J Rare Dis Date: 2019-02-26 Impact factor: 4.123
Authors: 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: Orphanet J Rare Dis Date: 2021-02-27 Impact factor: 4.123