It’s important to know Bylvay may not be effective in PFIC type 2 patients with ABCB11 variants resulting in non-functional or complete absence of BSEP-3.
About PFIC 22-5
- PFIC is a spectrum of autosomal recessive disorders
- In PFIC 2, the ABCB11 gene has mutations that lead to functional deficiency of the BSEP
- Targeted sequencing panels can be used by
clinicians to support a PFIC diagnosis. These
tests have a 27%-63% clinical sensitivity in
detecting causal mutations leading to PFIC
PFIC 2 can be subcategorized based on a patient’s mildest genetic mutation.
Only 21% of PFIC 2 patients have the BSEP-3 subtype1,5
~27% BSEP-1
Mildest predicted form, associated with residual BSEP functionality
~52% BSEP-2
Moderate predicted form
~21% BSEP-3
Severest form, with no residual BSEP functionality
For more about PFIC 2
Healthcare providers with questions about a patient’s PFIC 2 subcategorization can reach out to [medinfo@albireopharma.com].
See how the data line up across pruritus, sleep, and sBA throughout the PEDFIC trial
BSEP=bile salt export pump; PFIC=progressive familial intrahepatic cholestasis; sBA=serum bile acid.
References:
- Bylvay Prescribing Information. Boston, MA: Albireo Pharma, Inc.; 2023.
- Amirneni S, Haep N, Gad MA, Soto-Gutierrez A, Squires JE, Florentino RM. Molecular overview of progressive familial intrahepatic cholestasis. World J Gastroenterol. 2020;26(47):7470-7484.
- Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ. Systematic review of progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2019;43(1):20-36.
- Prevention Genetics; 2023. Accessed August 28, 2023.https://www.preventiongenetics.com/testInfo?val=Cholestasis-Panel
- van Wessel DBE, Thompson RJ, Gonzales E, et al. Genotype correlates with the natural history of severe bile salt export pump deficiency. J Hepatol. 2020;73(1):84-93.