Cholemia- familial
Overview
An inherited enzyme deficiency (UDP glucoronyl transferase) which causes periodic mild jaundice, abdominal pain, weakness and fatigue.
Symptoms
* Asymptomatic * Yellow tinge to skin and whites of eyes * Scleral jaundice * Fatigue * Nausea
Diagnosis
Jaundice (a high level of bilirubin) can be caused by many different diseases of the liver and blood. Therefore, if you develop jaundice you are likely to need tests to clarify the cause and to rule out serious disease. A blood test can usually confirm the diagnosis of Gilbert's syndrome as it shows a mildly raised level of bilirubin, but with all the other liver tests being normal. Rarely, other tests such as a liver biopsy may be done to rule out liver diseases if the diagnosis is in doubt. Gilbert's syndrome is also commonly diagnosed by chance when routine blood tests that are done for other problems show a raised level of bilirubin.
Treatment
No treatment is needed. People with Gilbert's syndrome normally lead healthy lives. Life expectancy is not affected. Mild jaundice may recur from time to time for short periods, but usually causes no health problems.