Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county
Background & Aims: Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, the frequency of truncating mutations to ADPLD genes in large, population sequencing databases is 1:496. With the increasing use of abdominal imaging, incidental d...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-12-01
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| Series: | JHEP Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2589555920301002 |
| _version_ | 1811296147113771008 |
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| author | Tatsuya Suwabe Alanna M. Chamberlain Jill M. Killian Bernard F. King Adriana V. Gregory Charles D. Madsen Xiaofang Wang Timothy L. Kline Fouad T. Chebib Marie C. Hogan Patrick S. Kamath Peter C. Harris Vicente E. Torres |
| author_facet | Tatsuya Suwabe Alanna M. Chamberlain Jill M. Killian Bernard F. King Adriana V. Gregory Charles D. Madsen Xiaofang Wang Timothy L. Kline Fouad T. Chebib Marie C. Hogan Patrick S. Kamath Peter C. Harris Vicente E. Torres |
| author_sort | Tatsuya Suwabe |
| collection | DOAJ |
| description | Background & Aims: Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, the frequency of truncating mutations to ADPLD genes in large, population sequencing databases is 1:496. With the increasing use of abdominal imaging, incidental detection of hepatic cysts and ADPLD has become more frequent. The present study was performed to ascertain the incidence and point prevalence of ADPLD in Olmsted County, MN, USA, and how these are impacted by the increasing utilisation of abdominal imaging. Methods: The Rochester Epidemiology Project and radiology databases of Mayo Clinic and Olmsted Medical Center were searched to identify all subjects meeting diagnostic criteria for definite, likely, or possible ADPLD. Annual incidence rates were calculated using incident cases during 1980–2016 as numerator, and age- and sex-specific estimates of the population of Olmsted County as denominator. Point prevalence was calculated using prevalence cases as numerator, and age- and sex-specific estimates of the population of Olmsted County on 1 January 2010 as denominator. Results: The incidence rate and point prevalence of combined definite and likely ADPLD were 1.01 per 100,000 person-years and 9.5 per 100,000 population, respectively. Only 15 of 35 definite and likely incident ADPLD cases had received a diagnostic code, and only 8 had clinically significant hepatomegaly. The incidence rates were much higher when adding possible cases, mainly identified through radiology databases, particularly in recent years and in older patients because of the increased utilisation of imaging studies. Conclusions: Clinically significant isolated ADPLD is a rare disease with a prevalence <1:10,000 population. The overall prevalence of ADPLD, however, to a large extent not clinically significant, is likely much higher and closer to the reported genetic prevalence. Lay summary: Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, we demonstrate that it is a relatively common disease, which is rarely (<1:10,000 population) clinically significant. |
| first_indexed | 2024-04-13T05:44:16Z |
| format | Article |
| id | doaj.art-b0a46e63d2e441f8913c41529029e50d |
| institution | Directory Open Access Journal |
| issn | 2589-5559 |
| language | English |
| last_indexed | 2024-04-13T05:44:16Z |
| publishDate | 2020-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | JHEP Reports |
| spelling | doaj.art-b0a46e63d2e441f8913c41529029e50d2022-12-22T03:00:00ZengElsevierJHEP Reports2589-55592020-12-0126100166Epidemiology of autosomal-dominant polycystic liver disease in Olmsted countyTatsuya Suwabe0Alanna M. Chamberlain1Jill M. Killian2Bernard F. King3Adriana V. Gregory4Charles D. Madsen5Xiaofang Wang6Timothy L. Kline7Fouad T. Chebib8Marie C. Hogan9Patrick S. Kamath10Peter C. Harris11Vicente E. Torres12Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USADepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USADepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USADepartment of Radiology, Mayo Clinic, Rochester, MN, USADivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USADivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USADivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USADepartment of Radiology, Mayo Clinic, Rochester, MN, USADivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USADivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USADivision of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USADivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USADivision of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA; Corresponding author. Address: Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.Background & Aims: Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, the frequency of truncating mutations to ADPLD genes in large, population sequencing databases is 1:496. With the increasing use of abdominal imaging, incidental detection of hepatic cysts and ADPLD has become more frequent. The present study was performed to ascertain the incidence and point prevalence of ADPLD in Olmsted County, MN, USA, and how these are impacted by the increasing utilisation of abdominal imaging. Methods: The Rochester Epidemiology Project and radiology databases of Mayo Clinic and Olmsted Medical Center were searched to identify all subjects meeting diagnostic criteria for definite, likely, or possible ADPLD. Annual incidence rates were calculated using incident cases during 1980–2016 as numerator, and age- and sex-specific estimates of the population of Olmsted County as denominator. Point prevalence was calculated using prevalence cases as numerator, and age- and sex-specific estimates of the population of Olmsted County on 1 January 2010 as denominator. Results: The incidence rate and point prevalence of combined definite and likely ADPLD were 1.01 per 100,000 person-years and 9.5 per 100,000 population, respectively. Only 15 of 35 definite and likely incident ADPLD cases had received a diagnostic code, and only 8 had clinically significant hepatomegaly. The incidence rates were much higher when adding possible cases, mainly identified through radiology databases, particularly in recent years and in older patients because of the increased utilisation of imaging studies. Conclusions: Clinically significant isolated ADPLD is a rare disease with a prevalence <1:10,000 population. The overall prevalence of ADPLD, however, to a large extent not clinically significant, is likely much higher and closer to the reported genetic prevalence. Lay summary: Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, we demonstrate that it is a relatively common disease, which is rarely (<1:10,000 population) clinically significant.http://www.sciencedirect.com/science/article/pii/S2589555920301002Autosomal-dominant polycystic liver diseasePolycystic liver diseaseHepatic cystsLiver imagingEpidemiologyIncidence |
| spellingShingle | Tatsuya Suwabe Alanna M. Chamberlain Jill M. Killian Bernard F. King Adriana V. Gregory Charles D. Madsen Xiaofang Wang Timothy L. Kline Fouad T. Chebib Marie C. Hogan Patrick S. Kamath Peter C. Harris Vicente E. Torres Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county JHEP Reports Autosomal-dominant polycystic liver disease Polycystic liver disease Hepatic cysts Liver imaging Epidemiology Incidence |
| title | Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county |
| title_full | Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county |
| title_fullStr | Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county |
| title_full_unstemmed | Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county |
| title_short | Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county |
| title_sort | epidemiology of autosomal dominant polycystic liver disease in olmsted county |
| topic | Autosomal-dominant polycystic liver disease Polycystic liver disease Hepatic cysts Liver imaging Epidemiology Incidence |
| url | http://www.sciencedirect.com/science/article/pii/S2589555920301002 |
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