Congenital hepatic fibrosis

CONGENITAL hepatic fibrosis is an uncommon cause of portal hypertension and usually presents as alimentary bleeding in childhood or adolescence. The occurrence in more than one member of a family has been described (Kerr et al., 1961; Campbell et al., 1958). This report concerns four members of one family who have presented with clinical features attributable to congenital hepatic fibrosis. Patient N.W. was investigated by us and the diagnosis of congenital hepatic fibrosis established. Because of a history of alimentary bleeding in three other members of the family their case records were obtained and studied. The family tree is shown in Fig. 1. Glasgow Royal Infirmary, for more detailed investigation. She gave a history of intermittent upper abdominal pain culminating in two haematemeses in 1965. Her childhood was healthy. She had miscarriages in 1958, 1959 and 1965. She was given a blood transfusion after her miscarriage in 1959 and the following day she had slight jaundice which persisted for about 10 days. In 1962 she gave birth to a normal full-term child. Physical examination revealed no significant abnormality. She had no obvious stigmata of liver disease. Kayser-Fleischer rings were not detected. Neither liver nor spleen was palpated. There was no abnormality of the central nervous system.