Cross-Sectional Analysis of Progressive Familial Intrahepatic Cholestasis in Puerto Rican Children

Dellys M. Soler, Antonio I. Del Valle, David Fernandez-Lube, Benjamin L. Shneider


Objective: Specific inherited disorders may be more common in island communities. Prior case reports suggest that cholestatic liver diseases may constitute a group of these inherited disorders in Puerto Rico. A cross-sectional survey of liver diseases in children was conducted to assess this hypothesis. Methods: A cross-sectional analysis was performed in patients with chronic cholestasis at “Hospital Pediátrico Universitario” in San Juan, Puerto Rico. Ten potential participants with high gamma-glutamyl transpeptidase (GGTP) cholestasis were identified. Therapeutic response to ursodeoxycholic acid (UDCA) was assessed by the examination of alanine aminotransferase (ALT) and GGTP changes. Results: Four participants, who were under 1 year of age, presented with pruritus, abnormal liver biochemistries, and/or hepatomegaly. Older patients had similar presentations but also had splenomegaly, jaundice, and/or esophageal varices. Three had progression of liver disease, 2 required liver transplantion after partial external biliary diversion. The third patient developed hypersplenism despite having a normal liver profile on UDCA. Six of 10 patients had normalization of their liver profiles (ALT<40 IU/L; GGTP<100 IU/L) after UDCA administration (before: ALT = 182 ± 61 and GGTP = 353 ± 192; after: ALT = 30 ± 15 and GGTP = 21 ± 13; p-value<0.001) Conclusion: The response to UDCA in a sub-group of patients in Puerto Rico with high GGTP cholestatic liver disease is described. The findings suggest the possibility that ABCB4-related disease is an important genetic disorder in Puerto Rico. Future investigations utilizing the genome sequence are important to the further understand liver disease in Puerto Rico.


liver; cirrhosis; bile acid; ursodeoxycholic acid; pediatric

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