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These disorders are heterogeneous\u2014not a single polymorphic condition\u2014and are associated with impaired quality of life and increased mortality. Global epidemiological data, particularly from Asia, remain limited. This study analyzes population-based data from Taiwan to provide real-world evidence.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This study utilized the Taiwan National Health Insurance Research Database (~\u200923\u00a0million population), which is linked with the Cause of Death Database and the Registry for National Health Insurance Catastrophic Illness Card database. Cases were validated through the rare disease registry of the Health Promotion Administration. The annual case numbers (2002\u20132022) were analyzed, with follow-up data on survival and causes of death. Outpatient and inpatient visits by specialty (2001\u20132022) and the average annual number of medical visits per person (2001\u20132022), including outpatient, inpatient and emergency visits, were assessed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 126 patients with porphyria, 77.0% were female, with a mean age at diagnosis of 35.12 years. The annual incidence ranges from 0.04 to 0.62 per million, with a prevalence of 5.15 per million in 2022. The neurology, family medicine, and otolaryngology departments accounted for the most outpatient visits, whereas hospitalizations were common in the pediatrics, neurology, and gastroenterology departments. The mortality rate was 1543.4 per 100,000 people, and healthcare utilization was significantly 2-fold and above than that in the general population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The incidence and prevalence of porphyria in Taiwan are lower than those reported in previous studies. The high mortality rate and diverse clinical manifestations emphasize the need for early diagnosis and timely management to reduce the disease burden.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-025-04110-7","type":"journal-article","created":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T20:54:05Z","timestamp":1763412845000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Epidemiological characteristics and natural history of porphyria \u2013 a twenty-year population-based analysis in Taiwan"],"prefix":"10.1186","volume":"20","author":[{"given":"Wei-Chih","family":"Wu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Hsuan","family":"Yeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chia-Chun","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yao-Tseng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yin-Fan","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chin-Sung","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ru-Hsueh","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaan-Der","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hung-Chou","family":"Kuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung-Hwan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0504-2053","authenticated-orcid":false,"given":"Chih-Hsing","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,11,17]]},"reference":[{"key":"4110_CR1","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1056\/NEJMra1608634","volume":"377","author":"DM Bissell","year":"2017","unstructured":"Bissell DM, Anderson KE, Bonkovsky HL, Porphyria. 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