title: A challenging diagnosis for potential fatal diseases: recommendations for diagnosing acute porphyrias.
abstract: Acute porphyrias are a heterogeneous group of metabolic disorders resulting from a variable catalytic defect of four enzymes out of the eight involved in the haem biosynthesis pathway; they are rare and mostly inherited diseases, but in some circumstances, the metabolic disturbance may be acquired. Many different environmental factors or pathological conditions (such as drugs, calorie restriction, hormones, infections, or alcohol abuse) often play a key role in triggering the clinical exacerbation (acute porphyric attack) of these diseases that may often mimic many other more common acute medical and neuropsychiatric conditions and whose delayed diagnosis and treatment may be fatal. In order to obtain an accurate diagnosis of acute porphyria, the knowledge and the use of appropriate diagnostic tools are mandatory, even in order to provide as soon as possible the more effective treatment and to prevent the use of potentially unsafe drugs, which can severely precipitate these diseases, especially in the presence of life-threatening symptoms. In this paper, we provide some recommendations for the diagnostic steps of acute porphyrias by reviewing literature and referring to clinical experience of the board members of the Gruppo Italiano Porfiria (GrIP).
authors.affiliation: Centre for Porphyrias, Division of Internal Medicine II, Department of Medical and Surgical Science - University of Modena and Reggio Emilia, Policlinico Hospital, Modena, Italy. Electronic address: paoloven@unimore.it.
authors.forename: Paolo
authors.initials: P
authors.lastname: Ventura
authors.affiliation: Department of Internal Medicine, IRCCS Cà Granda Foundation - Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
authors.affiliation: Centre for Porphyrias, Istituto Dermatologico S. Gallicano - Istituti Fisioterapici Ospitalieri, Rome, Italy.
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Biolcati
authors.affiliation: Centro Interregionale di Riferimento per la prevenzione, la sorveglianza, la diagnosi e la terapia delle Porfirie - I.R.C.C.S. Casa Sollievo Sofferenza, San Giovanni Rotondo, (Foggia), Italy.
authors.forename: Claudio Carmine
authors.initials: CC
authors.lastname: Guida
authors.affiliation: Centre for Porphyrias, Division of Internal Medicine II, Department of Medical and Surgical Science - University of Modena and Reggio Emilia, Policlinico Hospital, Modena, Italy.
authors.forename: Emilio
authors.initials: E
authors.lastname: Rocchi
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D046349:Coproporphyria, Hereditary / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007855:Lead Poisoning / Q000150:complications / Q000175:diagnosis*; D009325:Nausea / Q000209:etiology; D000623:Porphobilinogen Synthase / Q000172:deficiency; D017118:Porphyria, Acute Intermittent / Q000150:complications / Q000175:diagnosis*; D046350:Porphyria, Variegate / Q000150:complications / Q000175:diagnosis*; D017410:Practice Guidelines as Topic; D011595:Psychomotor Agitation / Q000209:etiology; D011618:Psychotic Disorders / Q000209:etiology; D014839:Vomiting / Q000209:etiology
chemical_list: D000623:Porphobilinogen Synthase
keywords: Acute porphyrias; Acute porphyric attack; Biochemical; Diagnosis; Differential diagnosis; Lead intoxication