cholestasis, progressive familial intrahepatic, 6

Cholestasis, progressive familial intrahepatic, 6 is a liver disorder characterized by impaired bile flow leading to conjugated hyperbilirubinemia and a range of hepatic complications. The condition is caused by pathogenic variants in the SLC51A gene, which plays a key role in bile acid transport. It typically presents in early childhood with symptoms such as failure to thrive and liver dysfunction. The disorder is inherited in an autosomal recessive manner, and although precise prevalence data is not available, it is considered to be very rare.

Individuals with cholestasis, progressive familial intrahepatic, 6 consistently exhibit a number of clinical features related to liver dysfunction. Characteristic findings include conjugated hyperbilirubinemia, intrahepatic cholestasis, failure to thrive, and chronic diarrhea. Additional features that are always present include elevated circulating levels of alkaline phosphatase, gamma-glutamyltransferase, and hepatic transaminases, along with periportal fibrosis, bleeding that may require red cell transfusion, and bruising susceptibility. Not all individuals experience every aspect to the same degree, and severity varies considerably.

Cholestasis, progressive familial intrahepatic, 6 is caused by pathogenic variants in the SLC51A gene, which is essential for normal bile acid transport through the liver. Disruption of this gene’s function leads to impaired bile flow and the subsequent development of liver-related symptoms. The condition is inherited in an autosomal recessive pattern, meaning that affected individuals have inherited two altered copies of the gene, one from each parent. This also implies that siblings have a recurrence risk, and genetic counseling is advised for families to understand these implications.

Currently, management of cholestasis, progressive familial intrahepatic, 6 focuses on supportive care and symptom management, as there are no FDA-approved treatments available. Treatment is tailored to the individual and typically involves a multidisciplinary team to address complications such as bleeding, nutritional deficits, and liver dysfunction. Regular monitoring and proactive management of symptoms are crucial. Genetic counseling is recommended to help families understand inheritance patterns and plan for the future, and patients should discuss available care strategies with their healthcare team.

The prognosis for cholestasis, progressive familial intrahepatic, 6 is variable, with outcomes depending on the severity of liver involvement and the timeliness of supportive care. With current standards of care, many individuals benefit from interventions that help manage symptoms and complications, though the condition may progress, stabilize, or show a variable course in different individuals. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with genetic counselors and specialists familiar with this condition to explore ongoing support and surveillance options.

Clinical trials are underway exploring new treatment approaches for cholestasis, progressive familial intrahepatic, 6. Individuals interested in participating in research or learning more about emerging therapies are encouraged to search ClinicalTrials.gov or consult their care team about eligibility.