Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver

Caroline Schmitt (1) , Hugo Lenglet , Angèle Yu (2) , Constance Delaby (3) , Arndt Benecke (4, 5) , Thibaud Lefebvre (6) , Philippe Letteron (1) , Valérie Paradis (7) , Staffan Wahlin , Sverre Sandberg (8) , Pauline Harper , Eliane Sardh , Arne Kristian Sandvik (9) , Johannes R Hov , Aasne Karine Aarsand , Laurence Chiche (10) , Céline Bazille (11) , Jean-Yves Scoazec (12) , Jordi To Figueras , Montserrat Carrascal (13) , Joaquim Abian (13) , Arienne Mirmiran , Zoubida Karim , Jean-Charles Deybach , Hervé Puy (14) , K. Peoc'H (15) , Hana Manceau , Laurent Gouya

1 CRI (UMR_S_1149 / ERL_8252 / U1149) - Centre de recherche sur l'Inflammation
2 STIM [Poitiers] - Signalisation et Transports Ioniques Membranaires
3 Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB)
4 Centre for Neuropsychopharmacology
5 NPS - Neuroscience Paris Seine
6 Labex Gr-Ex - Laboratoire d'Excellence : Biogenèse et pathologies du globule rouge
7 Service d’Anatomie Pathologique [CHU Beaujon]
8 Department of Public Health and Primary Health Care
9 BCCR - Bjerknes Centre for Climate Research
10 Department of Hepatobiliary Surgery
11 ISTCT - Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales
12 Département d'anatomopathologie, biopathologie
13 IIBB - Instituto de Investigaciones Biomedicas de Barcelona
14 CRB3 - Centre de recherche biomédicale Bichat-Beaujon
15 Hôpital Lariboisière

Acute intermittent porphyria (AIP) is an inherited disorder of haem metabolism characterized by life-threatening acute neurovisceral attacks due to the induction of hepatic δ-aminolevulinic acid synthase 1 (ALAS1) associated with hydroxymethylbilane synthase (HMBS) deficiency. So far, the treatment of choice is hemin which represses ALAS1. The main issue in the medical care of AIP patients is the occurrence of debilitating recurrent attacks.

Mots clés: acute intermittent porphyria; haem oxygenase 1; hemin; inflammation; iron overload

Domaines: Endocrinologie et métabolisme

Caroline Schmitt, Hugo Lenglet, Angèle Yu, Constance Delaby, Arndt Benecke, et al.. Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver. Journal of Internal Medicine, 2018, 284 (1), pp.78-91. ⟨10.1111/joim.12750⟩. ⟨hal-02503870⟩