{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:19:43Z","timestamp":1790813983817,"version":"4.1.0"},"reference-count":98,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T00:00:00Z","timestamp":1652140800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["RC\u20132022"],"award-info":[{"award-number":["RC\u20132022"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>The World Health Organization (WHO) describes \u201chealth\u201d as a state of physical, mental, and social well-being and not merely the absence of disease or infirmity. Therefore, a biopsychosocial approach should be considered as an integral part of patients\u2019 management. In this review, we summarize the available data starting from 1986 on the biological, psychological, and social aspects of porphyrias in order to provide a useful tool for clinicians about the missing knowledge within this field. Porphyrias are a group of rare metabolic disorders affecting the heme biosynthetic pathway and can be categorized into hepatic and erythropoietic. Here, a total of 20 articles reporting the psychological and the quality of life (QoL) data of porphyria patients affected by acute hepatic porphyrias (AHPs), Porphyria Cutanea Tarda (PCT), and Erythropoietic Protoporphyria (EPP) were analyzed. These 13 articles include reported quantitative methods using questionnaires, while the reaming articles employed qualitative descriptive approaches through direct interviews with patients by psychology professionals. We conclude that the use of questionnaires limits the complete description of all areas of a patient\u2019s life compared to a direct interview with specialists. However, only a combined use of these methods could be the best approach for the correct disorder management.<\/jats:p>","DOI":"10.3390\/diagnostics12051193","type":"journal-article","created":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T21:52:11Z","timestamp":1652219531000},"page":"1193","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Psychological Aspect and Quality of Life in Porphyrias: A Review"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1115-3374","authenticated-orcid":false,"given":"Granata","family":"Francesca","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Interna, Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annamaria","family":"Nicolli","sequence":"additional","affiliation":[{"name":"Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Colaiocco","sequence":"additional","affiliation":[{"name":"Dipartimento di Psicologia, IUSTO Istituto Universitario Salesiano Torino Rebaudengo, 10155 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1413-1349","authenticated-orcid":false,"given":"Elena","family":"Di Pierro","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Interna, Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6801-5730","authenticated-orcid":false,"given":"Giovanna","family":"Graziadei","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Interna, Fondazione IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.ymgme.2019.04.008","article-title":"Heme biosynthesis and the porphyrias","volume":"128","author":"Phillips","year":"2019","journal-title":"Mol. 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