Evaluation of long-term results of Caroli's disease: 21 years' observation of a family with autosomal "dominant" inheritance, and review of the literature.

A 5-year-old girl underwent laparotomy in 1972 because of hepatomegaly and mottled radiopacities shown by cholangiography. Polycystic segmental dilatation of the intrahepatic bile ducts, typical of Caroli's disease, was found. Thereafter she remained in good health for over 21 years with careful medical management. In 1972 mottled radiopacities of the hepatic parenchyma were also demonstrated by cholangiography in her 9-year-old brother, who, however, remained asymptomatic until hematemesis due to esophageal varices suddenly occurred in 1993. At the time of the pre-operative evaluation for esophageal transection, his condition was definitively diagnosed as Caroli's disease. Their father was in good health, but in 1993 was shown by CT to have the same disease. The mode of inheritance is likely to be autosomal dominant, although Caroli's disease or congenital hepatic fibrosis is generally considered autosomal recessive (McKusick number 263200) (1). If we had not examined the father, this particular family would have been accepted as an example of autosomal recessive inheritance. We suggest that further family studies are needed to exclude the autosomal dominant mode of inheritance, and that at least some of the recessive cases in the literature are, in fact, autosomal dominant. Well-documented cases of «classical» Caroli's disease in the literature were reviewed with special reference to the long-term results. In addition, an international questionnaire aimed at establishing the further clinical course of the patient was sent to authors who reported cases after 1968. Information was obtained on 15S cases: three died two to ten years after the reports; four were alive and well; eight were lost to follow-up; and information on survival for less than one year was not found to be convincing. If cases with a follow-up of less than one year are excluded from the analysis, it can be concluded that among cases reported after 1968 15 patients (62.5%) had died and nine (37.5%) were still alive. The longest follow-up period of a surviving patient among our cases was 17 years, with two other patients surviving for the next longest period of 14 years. Although the prognosis for patients with Caroli's disease is grave, it may be amenable to medical management, as shown in the first case of the present report. Complete clinical evaluation at diagnosis, and careful follow-up with long-term medical management are of prime importance, whether or not the condition is associated with signs of portal hypertension