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

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.