Gabriella A Lorusso Vivas, Ann-Christina Brady, Alejandro Llanos-Chea
{"title":"Familial polyposis syndrome and achalasia in a young adult.","authors":"Gabriella A Lorusso Vivas, Ann-Christina Brady, Alejandro Llanos-Chea","doi":"10.1002/jpr3.12161","DOIUrl":null,"url":null,"abstract":"<p><p>We report the case of a 19-year-old White male diagnosed with familial adenomatous polyposis (FAP), Gardner's syndrome (GS) phenotype, status post total colectomy, who developed progressive dysphagia and weight loss. He was diagnosed with achalasia based on imaging and esophageal manometry. The patient underwent a Heller myotomy with the resolution of symptoms. To date, no previous literature has reported on concurrent FAP or GS and achalasia. Although FAP and achalasia are both rare conditions with no previously known concurrent occurrence, association, or described syndrome, it is important to be vigilant of this new case report finding. One must also consider the increased risk of malignancy in patients with achalasia in addition to the significant risk of malignancy in patients with FAP/GS.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"166-169"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078049/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"JPGN reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/jpr3.12161","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/5/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
We report the case of a 19-year-old White male diagnosed with familial adenomatous polyposis (FAP), Gardner's syndrome (GS) phenotype, status post total colectomy, who developed progressive dysphagia and weight loss. He was diagnosed with achalasia based on imaging and esophageal manometry. The patient underwent a Heller myotomy with the resolution of symptoms. To date, no previous literature has reported on concurrent FAP or GS and achalasia. Although FAP and achalasia are both rare conditions with no previously known concurrent occurrence, association, or described syndrome, it is important to be vigilant of this new case report finding. One must also consider the increased risk of malignancy in patients with achalasia in addition to the significant risk of malignancy in patients with FAP/GS.
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