Expert commentary:
Landscape of late-onset genetic cholestasis
In the following expert video, Verena Keitel-Anselmino explains the complexities and
challenges of diagnosing late-onset genetic cholestasis and how this practical
algorithm tool can help you to effectively recognize and diagnose the disease, but
also make informed decisions on when to use genetic testing as well as how to
approach treatment both of symptoms as well as the underlying liver disease.
Expert commentary:
Differential diagnosis reached
In the following expert video, Verena Keitel-Anselmino explains why it is so
important to continue monitoring your patient for unexplained novel symptoms or
unresponsiveness to treatment after reaching a differential diagnosis, and when you
should refer back to this practical algorithm tool.
Expert commentary:
Predominant portal injury: bile duct injury +/- chronic cholestasis?
In the following expert video, Rosa Miquel discusses how histopathological features
of liver biopsies can help identify bile duct injury and chronic cholestasis,
emphasizing key diagnostic markers and staining techniques relevant to
cholangiopathies such as MDR3 deficiency.
Expert commentary:
Predominant lobular injury: bilirubinostasis?
In the following expert video, Rosa Miquel outlines the key histological patterns
seen in liver biopsies of patients with unexplained cholestasis—bland cholestasis
and cholestatic hepatitis—and explains how these findings can help distinguish
genetic cholestasis from other liver diseases and uncover potential underlying
disorders such as cholestatic drug-induced liver injury.
Expert commentary:
Genetic testing
In the following expert video, Richard Thompson explains when and why to initiate
genetic testing in patients with unexplained cholestasis, outlining common
approaches such as large gene panels or whole exome sequencing, and noting how
family history can guide more targeted strategies.
Expert commentary:
Diagnosis of late-onset genetic cholestasis
In the following expert video, Richard Thompson addresses how to interpret genetic
test results in cholestatic liver disease, focusing on the challenge of variants of
uncertain significance and emphasizing the importance of integrating clinical,
biochemical, and histological data to assess their relevance to the patient’s
phenotype.
Expert commentary:
Consider family screening/education
In the following expert video, Richard Thompson explores the familial implications
of receiving a genetic diagnosis for cholestatic liver disease, emphasizing the need
to assess and possibly test relatives and highlighting the importance of
collaboration with clinical genetics to guide individualized family screening and
management.
Expert commentary:
Management of underlying disease
In the following expert video, Richard Thompson discusses how understanding the
genetic basis and underlying mechanism of cholestatic liver disease guides treatment
decisions, highlighting the roles of ursodeoxycholic acid, IBAT inhibitors, and PPAR
agonists in managing bile acid retention and improving liver outcomes.
Expert commentary:
Symptom/complication management
In the following expert video, Richard Thompson emphasizes the importance of
managing both symptoms and complications in patients with cholestatic liver disease,
noting the role of adjunctive symptomatic treatments like rifampicin and SSRIs
alongside emerging targeted therapies, and underscoring the continued need for
nutritional support, supplementation, and cancer surveillance.
Expert commentary:
Monitoring
In the following expert video, Richard Thompson discusses the importance of
long-term monitoring in patients with genetic cholestatic liver diseases,
highlighting the need for regular imaging, tumor markers, and serum bile acid levels
to detect complications, assess treatment response, and guide decisions around
therapy escalation or liver transplantation—even in patients who show strong
symptomatic improvement.
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