Progressive familial intrahepatic cholestasis—outcome and time to transplant after biliary diversion according to genetic subtypes
BackgroundProgressive familial intrahepatic cholestasis (PFIC) is a heterogeneous disease characterized by progressive cholestasis in early childhood. Surgical therapy aims at preventing bile absorption either by external or internal biliary diversion (BD). Several different genetic subtypes encode...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-06-01
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| Series: | Frontiers in Surgery |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fsurg.2023.1074229/full |
| _version_ | 1797809042558550016 |
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| author | Abdulla Sahloul Elke Lainka Simone Kathemann Sandra Swoboda Carola Dröge Carola Dröge Verena Keitel Verena Keitel Yahya Saleh Al-Matary Michael Berger Maren Schulze Maren Schulze |
| author_facet | Abdulla Sahloul Elke Lainka Simone Kathemann Sandra Swoboda Carola Dröge Carola Dröge Verena Keitel Verena Keitel Yahya Saleh Al-Matary Michael Berger Maren Schulze Maren Schulze |
| author_sort | Abdulla Sahloul |
| collection | DOAJ |
| description | BackgroundProgressive familial intrahepatic cholestasis (PFIC) is a heterogeneous disease characterized by progressive cholestasis in early childhood. Surgical therapy aims at preventing bile absorption either by external or internal biliary diversion (BD). Several different genetic subtypes encode for defects in bile transport proteins, and new subtypes are being discovered ongoingly. Overall, the literature is scarce, however, accumulating evidence points to PFIC 2 having a more aggressive course and to respond less favorable to BD. With this knowledge, we aimed to retrospectively analyze the long-term outcome of PFIC 2 compared to PFIC 1 following BD in children at our center.MethodsClinical data and laboratory findings of all children with PFIC, who were treated and managed in our hospital between 1993 and 2022, were analyzed retrospectively.ResultsOverall, we treated 40 children with PFIC 1 (n = 10), PFIC 2 (n = 20) and PFIC 3 (n = 10). Biliary diversion was performed in 13 children (PFIC 1, n = 6 and 2, n = 7). Following BD, bile acids (BA) (p = 0.0002), cholesterol (p < 0.0001) and triglyceride (p < 0.0001) levels significantly decreased only in children with PFIC 1 but not in PFIC 2. Three out of 6 children (50%) with PFIC 1 and 4 out of 7 children (57%) with PFIC 2 required liver transplantation despite undergoing BD. On an individual case basis, BA reduction following BD predicted this outcome. Of the 10 children who had PFIC 3, none had biliary diversion and 7 (70%) required liver transplantation.ConclusionIn our cohort, biliary diversion was effective in decreasing bile acids, cholesterol levels as well as triglycerides in the serum only in children with PFIC 1 but not PFIC 2. On an individual case level, a decrease in BA following BD predicted the need for liver transplantation. |
| first_indexed | 2024-03-13T06:47:39Z |
| format | Article |
| id | doaj.art-b7161b171bf043bea082795a27b329ed |
| institution | Directory Open Access Journal |
| issn | 2296-875X |
| language | English |
| last_indexed | 2024-03-13T06:47:39Z |
| publishDate | 2023-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Surgery |
| spelling | doaj.art-b7161b171bf043bea082795a27b329ed2023-06-08T05:22:11ZengFrontiers Media S.A.Frontiers in Surgery2296-875X2023-06-011010.3389/fsurg.2023.10742291074229Progressive familial intrahepatic cholestasis—outcome and time to transplant after biliary diversion according to genetic subtypesAbdulla Sahloul0Elke Lainka1Simone Kathemann2Sandra Swoboda3Carola Dröge4Carola Dröge5Verena Keitel6Verena Keitel7Yahya Saleh Al-Matary8Michael Berger9Maren Schulze10Maren Schulze11Department of General, Visceral and Transplant Surgery, University Hospital Essen, University Duisburg-Essen, Essen, GermanyDepartment of Pediatric Gastroenterology, University Hospital Essen, University Duisburg-Essen, Essen, GermanyDepartment of Pediatric Gastroenterology, University Hospital Essen, University Duisburg-Essen, Essen, GermanyDepartment of General, Visceral and Transplant Surgery, University Hospital Essen, University Duisburg-Essen, Essen, GermanyDepartment of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, GermanyDepartment of Gastroenterology, Hepatology, and Infectious Diseases, Medical Faculty, Otto von Guericke University Magdeburg, Magdeburg, GermanyDepartment of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, GermanyDepartment of Gastroenterology, Hepatology, and Infectious Diseases, Medical Faculty, Otto von Guericke University Magdeburg, Magdeburg, GermanyDepartment of Dermatology, University Hospital Essen, Essen, GermanyDepartment of General, Visceral and Transplant Surgery, University Hospital Essen, University Duisburg-Essen, Essen, GermanyDepartment of General, Visceral and Transplant Surgery, University Hospital Essen, University Duisburg-Essen, Essen, GermanyKing Faisal Specialist Hospital & Research Centre, Organ Transplant Centre of Excellence, Riyadh, Saudi ArabiaBackgroundProgressive familial intrahepatic cholestasis (PFIC) is a heterogeneous disease characterized by progressive cholestasis in early childhood. Surgical therapy aims at preventing bile absorption either by external or internal biliary diversion (BD). Several different genetic subtypes encode for defects in bile transport proteins, and new subtypes are being discovered ongoingly. Overall, the literature is scarce, however, accumulating evidence points to PFIC 2 having a more aggressive course and to respond less favorable to BD. With this knowledge, we aimed to retrospectively analyze the long-term outcome of PFIC 2 compared to PFIC 1 following BD in children at our center.MethodsClinical data and laboratory findings of all children with PFIC, who were treated and managed in our hospital between 1993 and 2022, were analyzed retrospectively.ResultsOverall, we treated 40 children with PFIC 1 (n = 10), PFIC 2 (n = 20) and PFIC 3 (n = 10). Biliary diversion was performed in 13 children (PFIC 1, n = 6 and 2, n = 7). Following BD, bile acids (BA) (p = 0.0002), cholesterol (p < 0.0001) and triglyceride (p < 0.0001) levels significantly decreased only in children with PFIC 1 but not in PFIC 2. Three out of 6 children (50%) with PFIC 1 and 4 out of 7 children (57%) with PFIC 2 required liver transplantation despite undergoing BD. On an individual case basis, BA reduction following BD predicted this outcome. Of the 10 children who had PFIC 3, none had biliary diversion and 7 (70%) required liver transplantation.ConclusionIn our cohort, biliary diversion was effective in decreasing bile acids, cholesterol levels as well as triglycerides in the serum only in children with PFIC 1 but not PFIC 2. On an individual case level, a decrease in BA following BD predicted the need for liver transplantation.https://www.frontiersin.org/articles/10.3389/fsurg.2023.1074229/fullbiliary diversionmorbus bylerpediatric liver transplantation (pediatric LT)progressive familial intrahepatic cholestasis (PFIC)pediatric surgeryliver disease |
| spellingShingle | Abdulla Sahloul Elke Lainka Simone Kathemann Sandra Swoboda Carola Dröge Carola Dröge Verena Keitel Verena Keitel Yahya Saleh Al-Matary Michael Berger Maren Schulze Maren Schulze Progressive familial intrahepatic cholestasis—outcome and time to transplant after biliary diversion according to genetic subtypes Frontiers in Surgery biliary diversion morbus byler pediatric liver transplantation (pediatric LT) progressive familial intrahepatic cholestasis (PFIC) pediatric surgery liver disease |
| title | Progressive familial intrahepatic cholestasis—outcome and time to transplant after biliary diversion according to genetic subtypes |
| title_full | Progressive familial intrahepatic cholestasis—outcome and time to transplant after biliary diversion according to genetic subtypes |
| title_fullStr | Progressive familial intrahepatic cholestasis—outcome and time to transplant after biliary diversion according to genetic subtypes |
| title_full_unstemmed | Progressive familial intrahepatic cholestasis—outcome and time to transplant after biliary diversion according to genetic subtypes |
| title_short | Progressive familial intrahepatic cholestasis—outcome and time to transplant after biliary diversion according to genetic subtypes |
| title_sort | progressive familial intrahepatic cholestasis outcome and time to transplant after biliary diversion according to genetic subtypes |
| topic | biliary diversion morbus byler pediatric liver transplantation (pediatric LT) progressive familial intrahepatic cholestasis (PFIC) pediatric surgery liver disease |
| url | https://www.frontiersin.org/articles/10.3389/fsurg.2023.1074229/full |
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