Abstract:
BACKGROUND:Porphyrias are a group of metabolic diseases, individually rare but with an important combined prevalence. Because of their pathological complexity and clinical heterogeneity, they present a challenging diagnosis. The present review aims to provide a clinically based approach to the recognition and treatment of these disorders. METHODS:We carried out a search in PubMed, with the keyword "porphyria", for reviews published in English from 2010 until 2017. RESULTS:The research yielded 196 papers, of which 64 were included in the final narrative review. CONCLUSIONS:Porphyrias can be divided based on clinical presentation in acute neurovisceral, chronic cutaneous bullous, chronic cutaneous non-bullous and acute neurovisceral/chronic cutaneous bullous. Each individual porphyria presents a characteristic pattern of porphyrins in plasma, urine, stool and red blood cells. As such, diagnosis is easily obtained by following a simple diagnostic algorithm. Early recognition is key in managing these diseases. Neurovisceral porphyrias require acute support therapy and chronic eviction of precipitating factors. Cutaneous prophyrias, as photosensitivity disorders, rely on sunlight avoidance and, in some cases, specific therapeutic interventions. Given the rarity of these conditions, physician awareness is crucial.
journal_name
Eur J Intern Medjournal_title
European journal of internal medicineauthors
Rigor J,Pinto SA,Martins-Mendes Ddoi
10.1016/j.ejim.2019.06.014subject
Has Abstractpub_date
2019-09-01 00:00:00pages
24-29eissn
0953-6205issn
1879-0828pii
S0953-6205(19)30212-2journal_volume
67pub_type
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