The Answer May Be in Their Genes: |
LET’S GET THE |
TEDDYS TESTED |
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Dear [First Name] [Last Name][,] [Degree]: |
The unbearable truth: The road to a cholestatic liver disease diagnosis can feel challenging. However, there are several genetic disorders that can predispose patients like these Teddys to cholestasis, including Alagille syndrome (ALGS) and progressive familial intrahepatic cholestasis (PFIC). Genetic testing can confirm if a patient is carrying the respective gene and aid in diagnosing patients with these cholestatic diseases.1 |
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In ALGS, variability of clinical presentation and disease severity can result in underdiagnosis, misdiagnosis, or delayed diagnosis. Genetic testing, therefore, provides valuable confirmation, particularly in milder cases or in diagnosis of extended family.2 |
Approaches can include a combination of3*: |
GENE-TARGETED TESTING |
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Serial single-gene testing |
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COMPREHENSIVE GENOMIC TESTING |
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With PFIC, there are several investigations that help to aid in its diagnosis and differentiate it from other causes of cholestasis.4 However, no phenotypic features can distinguish PFIC1 from PFIC2 and other PFIC subtypes. As a result, genetic testing is the only reliable way to differentiate between PFIC subtypes.4,5 |
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The field of inherited cholestatic liver diseases is evolving rapidly as a result of advances in diagnosis based on genetic mutation associations.6 |
*Testing approach is dependent on the phenotype. |
For more information about genetic testing and/or to get started, visit Eurofins NTD Genetics. |
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References: 1. Müllenbach R, Lammert F. An update on genetic analysis of cholestatic liver diseases: digging deeper. Dig Dis. 2011;29(1):72-77. doi:10.1159/000324137 2. Kamath BM, Baker A, Houwen R, Todorova L, Kerkar N. Systematic review: the epidemiology, natural history, and burden of Alagille syndrome. J Pediatr Gastroenterol Nutr. 2018;67(2):148-156. doi:10.1097/MPG.0000000000001958 3. Spinner NB, Gilbert MA, Loomes KM, Krantz ID. Alagille syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle (WA): University of Washington, Seattle. Published online May 19, 2000. Updated December 12, 2019. Accessed March 9, 2021. https://www.ncbi.nlm.nih.gov/books/NBK1273/pdf/ Bookshelf_NBK1273.pdf 4. Srivastava A. Progressive familial intrahepatic cholestasis. J Clin Exp Hepatol. 2014;4(1):25-36. doi:10.1016/j.jceh.2013.10.005 5. Amer S, Hajira A. A comprehensive review of progressive familial intrahepatic cholestasis (PFIC): genetic disorders of hepatocanalicular transporters. Gastroenterol Res. 2014;7(2):39-43. doi:10.14740/gr609e 6. Goldberg A, Mack CL. Inherited cholestatic diseases in the era of personalized medicine. Clin Liver Dis (Hoboken). 2020;15(3):105-109. doi:10.1002/cld.872 |
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© 2021 – Mirum Pharmaceuticals, Inc.
All rights reserved. US-2100043 06/2021 |
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