Recurrent intrahepatic cholestasis

Intrahepatic recurrent cholestasis (IRC), after its first description in 1959, has been sporadically reported from all parts of the world. In total, less than 50 cases have been published, 4 of them in Italy. In the present report, six new patients are described: their age ranged between 16 and 51 yr; two were women. Four of them had several attacks of cholestatic jaundice, ranging from 4 to more than 10; two patients had, up to now, only one episode of jaundice: they are reported because they presented with all the features of the syndrome and had close familial relationship with the other patients. Clinically, they were characterized by pruritus and in the cases of longest duration, by steatorrhea and loss of weight. The peak of serum bilirubin, mainly in the conjugated form, ranged from 15 to over 50 mg/100 ml; alkaline phosphatases and serum cholesterol were very high during the attack, while serum transaminases were constantly normal or near normal. In all patients, the biliary tree was normal as proved either by direct cholangiography obtained during laparotomy or laparoscopy, or by intravenous cholangiogram performed in the interval between the attacks. Histology was obtained in all patients and in all, it showed heavy pigment deposition, normal liver structure, slight increase of fibrous tissue in portal spaces, where inflammatory infiltrates were present. In the interval between the attacks of jaundice, all patients showed complete remission of clinical and biochemical signs. The most striking feature of these cases is that all are natives of a very small area of the Appennines and all but one are more or less closely related. In particular, the two patients who had only one episode of jaundice are respectively sister and first cousin of one of the more typical cases. Moreover one patient has two brothers now living in England, already described as having IRC.