{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T14:45:03Z","timestamp":1776437103925,"version":"3.51.2"},"reference-count":41,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,6,13]],"date-time":"2021-06-13T00:00:00Z","timestamp":1623542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Gastro and Hepatol"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Aim<\/jats:title><jats:p>Achalasia is a rare disease, with an incidence of one in 100\u00a0000. Genetic factors and autoimmune involvement have been reported in its etiology, and their involvement is strongly suspected, especially in patients with familial achalasia and those with comorbid hereditary or autoimmune diseases. However, these special types of achalasia are rare, and their frequency and clinical characteristics remain unclear.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This retrospective, multicenter cohort study included Japanese patients with a diagnosis of achalasia, treated between 2010 and 2019 across six tertiary centers in Japan. The frequency and clinical characteristics of special types of achalasia, namely, familial achalasia, achalasia with a comorbid hereditary disease, and achalasia with a comorbid autoimmune disease, were retrospectively investigated using a large\u2010scale multicenter database.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>During the study period, 1115 patients were treated for achalasia at six tertiary centers. Familial achalasia, achalasia with a comorbid hereditary disease, and achalasia with a comorbid autoimmune disease occurred in 7 (0.63%), 11 (0.99%), and 27 (2.4%) patients, respectively. Familial achalasia had a slightly younger age of onset (37.6\u00a0\u00b1\u00a012.1\u00a0years old) and a higher incidence in male patients (six patients; 85.7%). Down's syndrome was the most common hereditary comorbidity, and thyroid disease was the most common autoimmune comorbidity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We clarified the frequency and clinical characteristics of special types of achalasia. Although special types of achalasia are rare, these comorbidities should be considered when treating patients with achalasia.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jgh.15557","type":"journal-article","created":{"date-parts":[[2021,5,25]],"date-time":"2021-05-25T11:45:00Z","timestamp":1621943100000},"page":"2828-2833","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Frequency and clinical characteristics of special types of achalasia in Japan: A large\u2010scale, multicenter database study"],"prefix":"10.1111","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3714-8565","authenticated-orcid":false,"given":"Shinwa","family":"Tanaka","sequence":"first","affiliation":[{"name":"Division of Gastroenterology, Department of Internal Medicine, Graduate School of Medicine Kobe University  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirofumi","family":"Abe","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Department of Internal Medicine, Graduate School of Medicine Kobe University  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7766-3724","authenticated-orcid":false,"given":"Hiroki","family":"Sato","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology Niigata University Medical and Dental Hospital  Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hironari","family":"Shiwaku","sequence":"additional","affiliation":[{"name":"Department of Gastroenterological Surgery, Faculty of Medicine Fukuoka University  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitomi","family":"Minami","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Nagasaki University Hospital  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiaki","family":"Sato","sequence":"additional","affiliation":[{"name":"Division of Advanced Surgical Science and Technology, School of Medicine Tohoku University  Sendai Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryo","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Faculty of Medicine Oita University  Oita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuto","family":"Shimamura","sequence":"additional","affiliation":[{"name":"Digestive Diseases Center Showa University Koto Toyosu Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Yokomichi","sequence":"additional","affiliation":[{"name":"Department of Health Sciences University of Yamanashi  Kofu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haruhiro","family":"Inoue","sequence":"additional","affiliation":[{"name":"Digestive Diseases Center Showa University Koto Toyosu Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-38"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2982.2005.00661.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00455-007-9116-1"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2982.2010.01511.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10620-006-9286-y"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00535-018-01544-8"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/729217"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v22.i35.7892"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0874-8"},{"key":"e_1_2_6_11_1","first-page":"1033","article-title":"Autoantibodies to Auerbach's plexus in achalasia","volume":"41","author":"Storch WB","year":"1995","journal-title":"Cell. 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