PRIMARY LYMPHOEDEMA COMBINED WITH HEREDITARY RECURRENT INTRAHEPATIC CHOLESTASIS

. Five related cases of primary lymphoedema combined with recurrent cholestasis are reported. The cholestasis was of intrahepatic origin with defective excretion of conjugated bilirubin, bile salts and lipids. During the cholestasis malabsorption was demonstrated and the patients were jaundiced and complained of severe itching. From prepuberty the patients developed massive oedema in the legs, enamel defects and discoloration of the teeth. Severe pathology was demonstrated by lymphangiography in the lower extremities in three of the patients. In the non-icteric periods the biochemical parameters were normal, but the peripheral oedema persisted. Liver histology showed only slight degeneration of some of the parenchymal cells, but no progressive fibrosis. Hepatic radionuclide lymphography with colloidal 198Au was performed in one patient. No lymphatic drainage was found suggestive of changes of the lymphatics in the liver. It is proposed that disturbed lymph flow of the liver is the main aetiological factor in the production of the recurrent intrahepatic cholestasis.