Hugo M Oliveira1, Cláudia Pereira2, Ermelinda Santos Silva3, Jorge Pinto-Basto4, Helena Pessegueiro Miranda5. 1. Department of Internal Medicine, Unidade Local de Saúde de Matosinhos - Hospital Pedro Hispano, Senhora da Hora Matosinhos, Portugal. Electronic address: oliveira.hugom@gmail.com. 2. Department of Internal Medicine, Centro Hospitalar do Porto - Hospital de Santo António, Porto, Portugal. 3. Division of Pediatric Gastroenterology, Department of Child and Adolescent, Centro Hospitalar do Porto - Hospital de Santo António, Porto, Portugal. 4. CGC Genetics/Centro Genética Clinica, Porto, Portugal. 5. Department of Internal Medicine, Centro Hospitalar do Porto - Hospital de Santo António, Porto, Portugal; Liver and Pancreatic Transplantation Unit, Centro Hospitalar do Porto - Hospital de Santo António, Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar (ICBAS) - Universidade do Porto, Porto, Portugal; Instituto de Saúde Publica da Universidade do Porto (ISPUP) - Universidade do Porto, Porto, Portugal.
Abstract
BACKGROUND: There are three types of progressive familial intrahepatic cholestasis (PFIC). Type 3 is characterized by elevated gamma-glutamyl transferase (γ-GT) and it can be diagnosed in adolescence/adulthood. The genetic defect of PFIC 3 appears to explain the pathogenesis of intrahepatic cholestasis of pregnancy (ICP). AIMS: Draw attention to this rare disease, especially in adulthood, and clarify the association between ICP and PFIC 3. RESULTS: We describe a series of cases from a Portuguese northern family with two brothers presenting chronic cholestasis since adolescence. Brother 1: since 15-years-old with pruritus and elevated γ-GT ∼6x. Brother 2: pre-term, due to severe maternal pruritus and jaundice, since 13-years-old with pruritus, jaundice and ∼8x γ-GT elevation. Common causes of cholestasis were excluded and liver histologies were nonspecific. Research for mutation on ABCB4 gene showed mutations in both alleles. CONCLUSION: Disease and mechanisms that determine cholestasis are complex and their understanding may provide new therapeutics.
BACKGROUND: There are three types of progressive familial intrahepatic cholestasis (PFIC). Type 3 is characterized by elevated gamma-glutamyl transferase (γ-GT) and it can be diagnosed in adolescence/adulthood. The genetic defect of PFIC 3 appears to explain the pathogenesis of intrahepatic cholestasis of pregnancy (ICP). AIMS: Draw attention to this rare disease, especially in adulthood, and clarify the association between ICP and PFIC 3. RESULTS: We describe a series of cases from a Portuguese northern family with two brothers presenting chronic cholestasis since adolescence. Brother 1: since 15-years-old with pruritus and elevated γ-GT ∼6x. Brother 2: pre-term, due to severe maternal pruritus and jaundice, since 13-years-old with pruritus, jaundice and ∼8x γ-GT elevation. Common causes of cholestasis were excluded and liver histologies were nonspecific. Research for mutation on ABCB4 gene showed mutations in both alleles. CONCLUSION: Disease and mechanisms that determine cholestasis are complex and their understanding may provide new therapeutics.