Familial intrahepatic cholestasis: consensus recommendations for healthcare professionals in Latin America
Gilda Porta1, Gustavo Boldrini2, Verónica Botero3
1Pediatric Hepatology and Transplant Unit, Hospital Menino Jesus, Sao Paulo, Brazil.
Background:
Progressive familial intrahepatic cholestasis (PFIC) is rare genetic liver disorders that often present with early-onset cholestasis, pruritus, and potential progression to severe liver complications. This article outlines consensus recommendations for the diagnosis and management of PFIC tailored to Latin American healthcare providers.
Methods:
A working group of 10 hepatologists across Latin America utilized the Population, Intervention, Comparison, and Outcome (P.I.C.O.) framework to address critical clinical questions related to PFIC's epidemiology, diagnosis, and treatment. A systematic literature review was conducted to understand the disease's heterogeneous nature and its impact on patients' quality of life.
Results:
The consensus emphasizes early referral to specialists, the importance of genetic testing for definitive diagnosis, and individualized treatment approaches with medical therapies including ursodeoxycholic acid and novel ileal bile acid transport inhibitors. Surgical options, including liver transplantation, should be considered based on disease sub-types. The article also highlights challenges unique to Latin America, such as limited access to specialized care and genetic testing.
Conclusions:
Early diagnosis and a comprehensive, individualized management plan are essential for improving outcomes in PFIC patients. This consensus aims to increase awareness and understanding of PFIC among healthcare providers.
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