A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias |
| |
| Institution: | 1. Centre for Porphyrias, Division of Internal Medicine II, Department of Medical and Surgical Science — University of Modena and Reggio Emilia, Policlinico Hospital, Modena, Italy;2. Department of Internal Medicine, IRCCS Cà Granda Foundation — Ospedale Maggiore Policlinico, Milan, Italy;3. Centre for Porphyrias, Istituto Dermatologico S. Gallicano — Istituti Fisioterapici Ospitalieri, Rome, Italy;4. 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;1. Emergency Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China;2. State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, China;3. Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China |
| |
| 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). |
| |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
