Alagille Syndrome: Epidemiology and Management of a Rare Genetic Disease

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Alagille Syndrome: Epidemiology and Management of a Rare Genetic Disease

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Alisha Mavis, MD

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References

  1. Yan J, Huang Y, Cao L, et al. Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome. BMC Pediatr. 2024;24(1):532. doi:10.1186/s12887-024-04973-y 

  2. Cheng K, Rosenthal P. Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis. Hepatol Commun. 2023 Dec 7;7(12):e0314. doi:10.1097/HC9.0000000000000314

  3. Global Allagile Alliance, GALA, website. The GALA Study. Published 2022. Accessed January 27, 2025.  https://www.galastudy.com/ 

  4. Karim F, Hiremath G, Samayoa JC, Said SM. Complex Pulmonary Artery Rehabilitation in Children with Alagille Syndrome: An Early Single-Center Experience of a Successful Collaborative Work. J Cardiovasc Dev Dis. 2024;11(8):232. doi:10.3390/jcdd11080232

  5. Vandriel SM, Loomes K, Sokal E, et al. Surgical biliary diversion is associated with an increased risk of liver transplantation or death in Alagille syndrome. AASLD Liver Meeting (Boston, USA. 09/11/2023 to 13/11/2023). In: Hepatology. 2023;78(S1):S1-S2154. Abstract 12 (2023). http://hdl.handle.net/2078.1/279387

  6. Hansen BE, Vandriel SM, Vig P, et al; the Global ALagille Alliance (GALA) Study Group. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA. Hepatology. 2024;79(6):1279-1292. doi:10.1097/HEP.0000000000000727

  7. Vandriel SM, Li L-T, She H, et al; the Global ALagille Alliance (GALA) Study Group. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Hepatology. 2023;77(2):512-529. doi:10.1002/hep.32761

  8. Murillo Perez CF, Vandriel SM, Sokal E, et al. Serum bile acids are associated with native liver survival in patients with Alagille syndrome: Results from the GALA Study Group. AASLD Liver Meeting (Boston, USA, 09/11/2023 to 13/11/2023). In: Hepatology. 2023;78(S1):S1-S2154. Abstract 121 (2023). http://hdl.handle.net/2078.1/279390

Author and Disclosure Information

Alisha Mavis, MD
Clinical Assistant Professor, Department of Pediatrics
Wake Forest University School of Medicine; 
Physician, Department of Pediatric Gastroenterology, Hepatology, and Nutrition
Medical Center
Charlotte, North Carolina 

Alisha Mavis, MD, has disclosed the following relevant financial relationships: Serve(d) as a director, officer, partner, employee, advisor, consultant, or trustee for: Ipsen; Mirum; Alexion Serve(d) as a member of a speakers bureau for: Ipsen; Mirum; Alexion

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Author(s)
Alisha Mavis, MD
Author(s)
Alisha Mavis, MD
Author and Disclosure Information

Alisha Mavis, MD
Clinical Assistant Professor, Department of Pediatrics
Wake Forest University School of Medicine; 
Physician, Department of Pediatric Gastroenterology, Hepatology, and Nutrition
Medical Center
Charlotte, North Carolina 

Alisha Mavis, MD, has disclosed the following relevant financial relationships: Serve(d) as a director, officer, partner, employee, advisor, consultant, or trustee for: Ipsen; Mirum; Alexion Serve(d) as a member of a speakers bureau for: Ipsen; Mirum; Alexion

Author and Disclosure Information

Alisha Mavis, MD
Clinical Assistant Professor, Department of Pediatrics
Wake Forest University School of Medicine; 
Physician, Department of Pediatric Gastroenterology, Hepatology, and Nutrition
Medical Center
Charlotte, North Carolina 

Alisha Mavis, MD, has disclosed the following relevant financial relationships: Serve(d) as a director, officer, partner, employee, advisor, consultant, or trustee for: Ipsen; Mirum; Alexion Serve(d) as a member of a speakers bureau for: Ipsen; Mirum; Alexion

Click here to view more from Gastroenterology Data Trends 2025.

Click here to view more from Gastroenterology Data Trends 2025.

References

  1. Yan J, Huang Y, Cao L, et al. Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome. BMC Pediatr. 2024;24(1):532. doi:10.1186/s12887-024-04973-y 

  2. Cheng K, Rosenthal P. Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis. Hepatol Commun. 2023 Dec 7;7(12):e0314. doi:10.1097/HC9.0000000000000314

  3. Global Allagile Alliance, GALA, website. The GALA Study. Published 2022. Accessed January 27, 2025.  https://www.galastudy.com/ 

  4. Karim F, Hiremath G, Samayoa JC, Said SM. Complex Pulmonary Artery Rehabilitation in Children with Alagille Syndrome: An Early Single-Center Experience of a Successful Collaborative Work. J Cardiovasc Dev Dis. 2024;11(8):232. doi:10.3390/jcdd11080232

  5. Vandriel SM, Loomes K, Sokal E, et al. Surgical biliary diversion is associated with an increased risk of liver transplantation or death in Alagille syndrome. AASLD Liver Meeting (Boston, USA. 09/11/2023 to 13/11/2023). In: Hepatology. 2023;78(S1):S1-S2154. Abstract 12 (2023). http://hdl.handle.net/2078.1/279387

  6. Hansen BE, Vandriel SM, Vig P, et al; the Global ALagille Alliance (GALA) Study Group. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA. Hepatology. 2024;79(6):1279-1292. doi:10.1097/HEP.0000000000000727

  7. Vandriel SM, Li L-T, She H, et al; the Global ALagille Alliance (GALA) Study Group. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Hepatology. 2023;77(2):512-529. doi:10.1002/hep.32761

  8. Murillo Perez CF, Vandriel SM, Sokal E, et al. Serum bile acids are associated with native liver survival in patients with Alagille syndrome: Results from the GALA Study Group. AASLD Liver Meeting (Boston, USA, 09/11/2023 to 13/11/2023). In: Hepatology. 2023;78(S1):S1-S2154. Abstract 121 (2023). http://hdl.handle.net/2078.1/279390

References

  1. Yan J, Huang Y, Cao L, et al. Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome. BMC Pediatr. 2024;24(1):532. doi:10.1186/s12887-024-04973-y 

  2. Cheng K, Rosenthal P. Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis. Hepatol Commun. 2023 Dec 7;7(12):e0314. doi:10.1097/HC9.0000000000000314

  3. Global Allagile Alliance, GALA, website. The GALA Study. Published 2022. Accessed January 27, 2025.  https://www.galastudy.com/ 

  4. Karim F, Hiremath G, Samayoa JC, Said SM. Complex Pulmonary Artery Rehabilitation in Children with Alagille Syndrome: An Early Single-Center Experience of a Successful Collaborative Work. J Cardiovasc Dev Dis. 2024;11(8):232. doi:10.3390/jcdd11080232

  5. Vandriel SM, Loomes K, Sokal E, et al. Surgical biliary diversion is associated with an increased risk of liver transplantation or death in Alagille syndrome. AASLD Liver Meeting (Boston, USA. 09/11/2023 to 13/11/2023). In: Hepatology. 2023;78(S1):S1-S2154. Abstract 12 (2023). http://hdl.handle.net/2078.1/279387

  6. Hansen BE, Vandriel SM, Vig P, et al; the Global ALagille Alliance (GALA) Study Group. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA. Hepatology. 2024;79(6):1279-1292. doi:10.1097/HEP.0000000000000727

  7. Vandriel SM, Li L-T, She H, et al; the Global ALagille Alliance (GALA) Study Group. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Hepatology. 2023;77(2):512-529. doi:10.1002/hep.32761

  8. Murillo Perez CF, Vandriel SM, Sokal E, et al. Serum bile acids are associated with native liver survival in patients with Alagille syndrome: Results from the GALA Study Group. AASLD Liver Meeting (Boston, USA, 09/11/2023 to 13/11/2023). In: Hepatology. 2023;78(S1):S1-S2154. Abstract 121 (2023). http://hdl.handle.net/2078.1/279390

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Alagille Syndrome: Epidemiology and Management of a Rare Genetic Disease

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Alagille syndrome (ALGS) is a rare, genetically inherited multisystem disorder that typically presents in early childhood.1 The condition is attributed to pathogenic variants in the Notch Homolog 2 (NOTCH2) and jagged canonical Notch ligand 1 (JAG1) genes.1,2 The incidence of ALGS is estimated to be between 1 in 30,000 to 1 in 1,000,000 individuals.1

This condition is characterized by a range of symptoms and anomalies, most notably cholestasis, which can lead to severe liver disease.1 These anomalies can include renal anomalies, cardiac abnormalities, vascular malformations, bone deformities, eye irregularities, and developmental delays.1,3 Genetic testing and diagnostic imaging are key in diagnosis.1 Treatment includes medication to address symptoms─especially pruritus─and liver transplant is not uncommon in these patients.2

The Global Alagille Alliance (GALA) Study comprises more than 100 physicians, surgeons, scientists, and research coordinators from 32 countries around the world. This study aims to produce several significant findings regarding ALGS that contribute to a better understanding of the condition and help improve clinical decision-making and patient care.3,4

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Alagille Syndrome

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In this article Alisha Mavis, MD, discusses the prevalence, diagnosis, challenges, and management of patients with this Alagille Syndrome, as well as the need for a multidisciplinary approach to care. 

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In this article Alisha Mavis, MD, discusses the prevalence, diagnosis, challenges, and management of patients with this Alagille Syndrome, as well as the need for a multidisciplinary approach to care. 

Click Here to Read More 

 

 

 

 

 

 

 

 

 

 

 

In this article Alisha Mavis, MD, discusses the prevalence, diagnosis, challenges, and management of patients with this Alagille Syndrome, as well as the need for a multidisciplinary approach to care. 

Click Here to Read More 

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