Unusual severe hypercholesterolaemia and xanthomas in a patient with hepatolithiasis.

Abstract

A 47-year-old woman had undergone cholecystectomy for gallstones in December 1994 at a local hospital. In December 1995 she presented at the surgical outpatient department with intermittent right upper quadrant pain. Laboratory studies revealed serum albumin 4.3 g/dl (normal 3.5–5.3 g/dl), total cholesterol 307 mg/dl (normal <200 mg/dl), total bilirubin 1.8 mg/dl (normal 0.0–1.3 mg/dl), alkaline phosphatase 602 U/litre (normal 28–94 U/litre), aspartate aminotransferase (AST) 129 U/litre (normal 0–34 U/litre), and alanine aminotransferase (ALT) 196 U/litre (normal 0–36 U/litre). Liver sonography revealed multiple stones in dilated intrahepatic and common hepatic ducts. However, the patient did not receive further studies of her hepatolithiasis at that time. The patient underwent percutaneous transhepatic cholangiostomy drainage for intrahepatic stones and jaundice in a medical centre in January 1998. In February 1998 she was transferred to the surgical department because of persistent jaundice. Physical examination revealed that the woman was markedly icteric, with an old scar on the right upper abdominal wall, and no xanthoma was found on the body. Laboratory results included that serum albumin was 4.1 g/dl, total cholesterol was 256 mg/dl, total bilirubin was 12 mg/dl, alkaline phosphatase was 512 U/litre, AST was 101 U/litre and ALT was 100 U/litre. Cholangiogram showed a dilated biliary tree with multiple stones in intrahepatic ducts, common hepatic ducts and the common bile duct. The patient underwent choledocholithotomy with choledochojejunostomy, Roux-en-Y jejunojejunostomy, and a T-tube drainage in the common bile duct in February 1998. The liver biopsy displayed cholestasis and no cirrhotic change. Following surgery the woman was regularly followed up in the outpatient department and intrahepatic stones were removed intermittently via a T-tube. Cholangitis was noted during follow-up, and the patient received five 7-day courses of amoxicillin 1000 mg/day in divided doses from September 1998 to February 1999. The jaundice was persistent during follow up, and painful xanthomas developed on both hands and elbows in February 1999, particularly on the palmar side (Figure 1). Laboratory tests revealed significantly raised serum total cholesterol, total bilirubin, and alkaline phosphatase levels (Figure 2). Lipoprotein electrophoresis displayed that total cholesterol was 1046 mg/dl, β-lipoprotein (low-density lipoprotein) was 72.6% (normal 36–61%), pre-β-lipoprotein (very low-density lipoprotein) was 15.7% (normal 2–30%), and α-lipoprotein (high-density lipoprotein) was 11.7% (normal 22–48%). Subsequently, the patient received no more amoxicillin, and the xanthomas gradually regressed. Total regression of hypercholesterolaemia and xanthomas was achieved in November 2000, at which point total serum cholesterol was 200 mg/dl, total bilirubin was 12 mg/dl, and alkaline phosphatase was 676 U/litre.