Clinical Features
The course of the disease is very variable. Typically in one third of cases it presents insidiously with fatigue, itching, mild jaundice and discomfort in the upper abdomen. Some people (another third of the total) present with late manifestations such ascites (excessive abdominal fluid), bleeding from oesophageal varices, liver failure or liver malignancy. The remaining third of people may be asymptomatic for some years. The progression of the disease is monitored by blood tests, which measure the amount of bilirubin in the blood.
With progressive disease the person may be jaundiced with scratch marks and skin lesions due to abnormal depositions of fatty substances in the skin called xanthelasmata. These occur around the eyes, on the hands, knees, elbows and wrists and in tendons and on nerves. The liver and spleen will be enlarged on clinical palpation. Other skin manifestations due to impaired liver function may be seen, e.g. spider naevi, palmar erythema (red palms). With progressive and advancing disease ascites develops and limbs become swollen and oedematous.
Since bile is needed for the digestion of fats in the intestine, defective production leads to excessive fat in the stools. This causes frequent passage of loose fatty stools - diarrhoea and steatorrhoea. There is also malabsorption of fat soluble vitamins including vitamin D. Vitamin D is essential for normal bone metabolism and structure. Without it osteoporosis, bone pain and vertebral collapse may ensue.
Late complications include development of hepatic encephalopathy and portal hypertension. Hepato-cellular carcinoma may develop in the cirrhotic liver.
