title: [Porphyrias and haem related disorders].
abstract: The hereditary porphyrias comprise a group of eight metabolic disorders of the haem biosynthesis pathway characterised by acute neurovisceral symptoms, skin lesions or both. Each porphyria is caused by abnormal function of a separate enzymatic step resulting in a specific accumulation of haem precursors. Seven porphyrias are the consequence of a partial enzyme deficiency while a gain of function mechanism has been recently characterised in a novel porphyria. Acute porphyrias present with severe abdominal pain, nausea, constipation, confusion and seizure, which may be life threatening. Cutaneous porphyrias can be present with either acute painful photosensitivity or skin fragility and blisters. Rare recessive porphyrias usually manifest in early childhood with either severe chronic neurological symptoms or chronic haemolysis and severe cutaneous photosensitivity. Porphyrias are still underdiagnosed, but once they are suspected, and depending on the clinical presentation, a specific and simple front line test allows the diagnosis in all symptomatic patients. Diagnosis is essential to institute as soon as possible a specific treatment. Screening families to identify presymptomatic carriers is crucial to prevent chronic complications and overt disease by counselling on avoiding potential precipitants.
authors.affiliation: Centre français des porphyries, hôpital Louis-Mourier, Assistance publique-Hôpitaux de Paris (AP-HP), 92701 Colombes, France; U1149/ERL CNRS 8252, centre de recherche sur l'inflammation Paris, Montmartre, université Paris Diderot, site Bichat, Sorbonne Paris Cité, 75004 Paris, France.
authors.forename: K
authors.initials: K
authors.lastname: Peoc'h
authors.affiliation: Centre français des porphyries, hôpital Louis-Mourier, Assistance publique-Hôpitaux de Paris (AP-HP), 92701 Colombes, France; Laboratoire d'excellence, GR-Ex, 75015 Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Martin-Schmitt
authors.affiliation: Centre français des porphyries, hôpital Louis-Mourier, Assistance publique-Hôpitaux de Paris (AP-HP), 92701 Colombes, France.
authors.forename: N
authors.initials: N
authors.lastname: Talbi
authors.affiliation: Centre français des porphyries, hôpital Louis-Mourier, Assistance publique-Hôpitaux de Paris (AP-HP), 92701 Colombes, France; Laboratoire d'excellence, GR-Ex, 75015 Paris, France.
authors.forename: J-C
authors.initials: JC
authors.lastname: Deybach
authors.affiliation: Centre français des porphyries, hôpital Louis-Mourier, Assistance publique-Hôpitaux de Paris (AP-HP), 92701 Colombes, France; Laboratoire d'excellence, GR-Ex, 75015 Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Gouya
authors.affiliation: Centre français des porphyries, hôpital Louis-Mourier, Assistance publique-Hôpitaux de Paris (AP-HP), 92701 Colombes, France; Laboratoire d'excellence, GR-Ex, 75015 Paris, France. Electronic address: herve.puy@aphp.fr.
authors.forename: H
authors.initials: H
authors.lastname: Puy
mesh_terms: D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006402:Hematologic Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006418:Heme / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D011164:Porphyrias / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy
chemical_list: D006418:Heme
keywords: Erythropoiesis; Haem; Hème; Metabolism; Métabolisme; Porphyrias; Porphyries; Érythropoïèse