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.
Related blog posts:
- Blood Test is Better Than a Liver Biopsy for Bilary Atresia
- Will We Still Need a Liver Biopsy to Diagnose Biliary Atresia in a Few Years?
- Helpful Review on Biliary Atresia | gutsandgrowth
- Newborn bilirubin measurements for biliary atresia
- Neonatal cholestasis for neonatologists
- Guideline links for TEF and Infant Cholestasis
- Neonatal Cholestasis Lecture
- Diagnosing biliary atresia earlier | gutsandgrowth
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