Researchers indicate that disease characteristics consistent with ABCB4 mutations “should be considered when facing cholestasis of unclear etiology,” or cause.
The case study, “Unveiling the Genetic Culprit: A Diagnostic Dilemma of Recurrent Cholestasis With Intrahepatic Stones,” published in the ACG Case Reports Journal is worth reading.
A young woman located in the USA who experienced recurrent cholestasis was later found, with the help of genetic testing, to have a mutation in the ABCB4 gene — which is one that’s been linked to some forms of cholestasis.
The research team highlighted that when the cause of recurrent cholestasis is unclear, doctors should consider genetic testing for mutations in this gene to either rule it in or out as playing a role. The researchers mention that early diagnosis of recurrent cholestasis and treatment with ursodeoxycholic acid can aid in the prevention of liver damage and yet more serious complications in patients.