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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.

Recurrent familial intrahepatic cholestasis is an autosomal recessive disorder characterized by episodes of severe pruritus and jaundice lasting for weeks to months without extrahepatic bile duct obstruction. Symptom-free intervals may last for months to years, and chronic liver damage does not develop. We recently studied four of the five patients from the Faeroe Islands described by us 30 years ago (one had recently died) and an additional five patients that were identified after the initial report. The episodes of cholestasis were more frequent and severe in patients with early onset, but tended to reduce in frequency with age. The youngest patient, aged 25 years, who had had 16 episodes each lasting about 6 months, had a liver transplant after which no further episodes were recorded (1 year after surgery). Signs of chronic liver disease were absent in all patients. The FIC1 gene was investigated for mutations in the surviving patients. A single mutation (I661T) was found on both chromosomes in all nine patients, indicating that they are genetically identical for the disease-causing defect. Nevertheless, considerable differences among patients were observed clinically.[1]

References

  1. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Tygstrup, N., Steig, B.A., Juijn, J.A., Bull, L.N., Houwen, R.H. Hepatology (1999) [Pubmed]
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