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New Way to Diagnose Biliary Atresia

April 25, 2019 7:00 am

Case report: Recently, our group consulted on a 3 week old infant (ex34 week) who weighed 2.8 kg and had cholestasis. In addition, he had a GGT in the 400s and an ultrasound notable for a “small” gallbladder. Due to the patient’s small size, he underwent a HIDA (no excretion). The GGT was actually improving but the clinical situation was concerning for biliary atresia.

Instead of arranging a liver biopsy, we were able to perform a MMP-7 (Serum Matrix Metalloproteinase-7) assay which will be commercially available soon. The result, which returned in 48 hours, indicated that the child had a >95% likelihood of biliary atresia. Subsequently, this infant is recovering from a hepatoportoenterostomy. No liver biopsy was needed prior to surgery.

My take: The MMP-7 assay is a remarkable test which is going to rapidly change the approach to infants with cholestasis. I expect that this test will be ordered along with a serum alpha-one antitrypsin phenotype and an ultrasound. In those with persistent cholestasis with negative initial testing, it is likely that, in the majority, a genetic cholestasis panel would be pursued rather than a liver biopsy.

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