XANTHOMATOUS BILIARY CIRRHOSIS (A CLINICAL SYNDROME)

Abstract

Xanthomatous biliary cirrhosis (pericholangiolitic biliary cirrhosis), with plain and tuberous skin xanthoma, was observed in five cases. The clinical features, the clinical course and the pathology of the disease as visualized in early biopsies and autopsies are described. The clinical syndrome consists of: (a) Skin xanthoma of the "plain and tuberous" variety; (b) enlarged liver and spleen; (c) obstructive type of jaundice of year''s duration; (d) extremely high values for total cholesterols (4-8 times those of normal) as well as for lecithin (4-10 times those of normal) in the serum; (e) low values of neutral fat in the serum. The serum is transparent and not creamy. The anatomical findings in the early biopsies at the time when the extremely high cholesterol and lecithin values are present in the serum are as follows: Non-specific, chronic inflammatory reaction centered about the smallest bile ducts and junction ducts in the portal areas; blocking of the finest bile ducts and subsequent intralobular bile stasis; lack of involvement of large bile ducts; and absence of foam cells in the liver tissue. The anatomical designation "Pericholangiolitic biliary cirrhosis with plain and tuberous skin xanthoma" is proposed for this clinical syndrome under discussion. The etiology of the disease is discussed. Two possibilities for the etiology are debated: The excessively high content of the serum cholesterols and lecithins may be caused only by retention resulting from obstruction of the finest bile capillaries and junction ducts; or increased new formation of cholesterol and lecithin by the liver together with impaired excretion resulting from the obliteration of the finest bile ducts and junction ducts may be responsible for the clinical features of the syndrome. Various laboratory findings and clinical features of the described cases are in favor of the 2d explanation of the disease. The disease so far is observed mainly in females. There is no familial occurrence. It should, therefore, not be classified (as formerly suggested) under the group of essential xanthomatosis of the hypercholesteremic type (hypercholesteremic familial xanthomatosis). Xanthomatosis biliary cirrhosis (pericholangiol-itic biliary cirrhosis) is a liver disorder and a disease entity by itself. The differential diagnosis of the disease is discussed.