title: [Acute intermittent porphyria: Long-term follow up of 35 patients].
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.affiliation: 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.
authors.forename: Carmen
authors.initials: C
authors.lastname: Herrero
authors.affiliation: 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.
authors.forename: Celia
authors.initials: C
authors.lastname: Badenas
authors.affiliation: 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.
authors.forename: Paula
authors.initials: P
authors.lastname: Aguilera
authors.affiliation: 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.
authors.forename: Jordi
authors.initials: J
authors.lastname: To-Figueras
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004334:Drug Administration Schedule; D005260:Female; D005500:Follow-Up Studies; D006427:Hemin / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017118:Porphyria, Acute Intermittent / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy* / Q000453:epidemiology; D012008:Recurrence; D012074:Remission Induction; D013030:Spain / Q000453:epidemiology; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D006427:Hemin
keywords: Acute intermittent porphyria; Crisis neurovisceral; Hemin; Hemina; Neurovisceral crisis; Porfiria aguda intermitente; Porfobilinógeno deaminasa; Porphobilinogen deaminase