Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review
Abstract Introduction Progressive Familial intrahepatic cholestasis (PFIC) are rare disorders of bile acid (BAs) secretion and transport with a genetic background. PFIC are paediatric manifestations, but the same variants causing PFIC can also cause cholestasis with a later paediatric onset or adult...
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BMC
2025-02-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03599-2 |
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| author | Giovanni Vitale Marco Sciveres Claudia Mandato Adamo Pio d’Adamo Angelo Di Giorgio |
| author_facet | Giovanni Vitale Marco Sciveres Claudia Mandato Adamo Pio d’Adamo Angelo Di Giorgio |
| author_sort | Giovanni Vitale |
| collection | DOAJ |
| description | Abstract Introduction Progressive Familial intrahepatic cholestasis (PFIC) are rare disorders of bile acid (BAs) secretion and transport with a genetic background. PFIC are paediatric manifestations, but the same variants causing PFIC can also cause cholestasis with a later paediatric onset or adult-onset cholestatic disease (AOCD). Pruritus is a symptom of cholestasis that can be so devastating that it requires a liver transplant (LT) in children; some PFIC types have been described as at risk of liver cancer development. Commonly prescribed medications for PFIC symptoms can partially relieve pruritus without changing the natural history of the disease. Recently, a therapy reducing the intestinal resorption of BAs has been approved; it is effective on both pruritus and cholestasis in PFIC, potentially being a disease-modifying intervention. Areas covered The clinical and genetic characteristics of different PFIC and AOCD are summarized to provide a common background for geneticists and paediatric and adult hepatologists in diagnosis and management. Expert opinion Collaboration between paediatric and adult hepatologists and geneticists will become crucial for cholestatic disease research and patient treatment. Therefore, adult hepatologists will need to learn more about FIC. This might enable the implementation of individualized surveillance in FIC patients and the evaluation of patient family histories. |
| format | Article |
| id | doaj-art-a6dd4a0ff1944a598b648eed5a657d9a |
| institution | DOAJ |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-a6dd4a0ff1944a598b648eed5a657d9a2025-08-20T03:10:51ZengBMCOrphanet Journal of Rare Diseases1750-11722025-02-0120112110.1186/s13023-025-03599-2Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art reviewGiovanni Vitale0Marco Sciveres1Claudia Mandato2Adamo Pio d’Adamo3Angelo Di Giorgio4Internal Medicine Unit for the Treatment of Severe Organ Failure, IRCCS Azienda Ospedaliero-Universitaria di BolognaEpatologia e Clinica dei Trapianti, Ospedale Pediatrico IRCCS Bambino GesùDipartimento di Medicina, Chirurgia e Odontoiatria “Scuola Medica Salernitana”, Section of PediatricsDepartment of Medicine, Surgery and Health Sciences, University of TriestePediatric Hepatology Gastroenterology and Transplantation, Hospital Papa Giovanni XIIIAbstract Introduction Progressive Familial intrahepatic cholestasis (PFIC) are rare disorders of bile acid (BAs) secretion and transport with a genetic background. PFIC are paediatric manifestations, but the same variants causing PFIC can also cause cholestasis with a later paediatric onset or adult-onset cholestatic disease (AOCD). Pruritus is a symptom of cholestasis that can be so devastating that it requires a liver transplant (LT) in children; some PFIC types have been described as at risk of liver cancer development. Commonly prescribed medications for PFIC symptoms can partially relieve pruritus without changing the natural history of the disease. Recently, a therapy reducing the intestinal resorption of BAs has been approved; it is effective on both pruritus and cholestasis in PFIC, potentially being a disease-modifying intervention. Areas covered The clinical and genetic characteristics of different PFIC and AOCD are summarized to provide a common background for geneticists and paediatric and adult hepatologists in diagnosis and management. Expert opinion Collaboration between paediatric and adult hepatologists and geneticists will become crucial for cholestatic disease research and patient treatment. Therefore, adult hepatologists will need to learn more about FIC. This might enable the implementation of individualized surveillance in FIC patients and the evaluation of patient family histories.https://doi.org/10.1186/s13023-025-03599-2AdultBile acidsCholestasisIntrahepaticDrug therapyPaediatric |
| spellingShingle | Giovanni Vitale Marco Sciveres Claudia Mandato Adamo Pio d’Adamo Angelo Di Giorgio Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review Orphanet Journal of Rare Diseases Adult Bile acids Cholestasis Intrahepatic Drug therapy Paediatric |
| title | Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review |
| title_full | Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review |
| title_fullStr | Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review |
| title_full_unstemmed | Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review |
| title_short | Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review |
| title_sort | genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis a state of the art review |
| topic | Adult Bile acids Cholestasis Intrahepatic Drug therapy Paediatric |
| url | https://doi.org/10.1186/s13023-025-03599-2 |
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