My question is, could an elevated bilirubin level be caused by hemachromatosis? A recent couple of blood tests showed an elevated bilirubin level. My doctor quickly ruled out everything but gallstones, for which I had an abdominal ultrasound. This showed nothing, so he concluded Gilbert's Syndrome.
For the past couple of weeks I have been feeling tired, and have had pain in the knuckle of my middle finger of my right hand. I have though little of this until I was poking around on the internet and found that these are both early symptoms of hemachromatosis. I am going to ask my doctor to do a fasting transferrin saturation test. I am just curious if the elevated bilirubin is something that could be caused by hemachromatosis.
I am 29, by the way.
An elevated bilirubin level (hyperbilirubinemia) can be a sign of a myriad number of medical conditions. These can be grouped into three categories-
1. Diseases of the liver.
2. Obstruction of bile flow.
3. Excessive breakdown of red cells.
An ultrasound should be able to detect any blockage in the bile ducts, eg due to gallstones. Since you have indicated that the ultrasound is normal, I can assume that there is no obstruction of bile flow.
Excessive breakdown of red cells can be detected by routine blood tests. These must have been performed by your doctor.
There are a large number of liver diseases that can cause hyperbilirubinemia. By evaluating other blood tests of the liver it is possible to narrow the diagnosis. Additional blood tests can be done which help to pinpoint a diagnosis. You indicate that these tests were normal.
Gilbert's syndrome is a medical condition manifested by increased bilirubin. The only symptom is yellow color of the eyes (jaundice) which may be especially prominent after fasting, exercise or other physical stress. It has absolutely nolongterm complications of Gilbert's Disease. . If you indeed have Gilbert's syndrome, you do not need to be concerned at all.
Hemochromatosis is a rare disease in which there is excessive deposition of iron in various organs of the body. It can cause liver disease, heart disease, diabetes and skin pigmentation. Deposition of iron in excessive amounts in the liver causes damage to the liver. However the earliest biochemical manifestation is not hyperbilirubinemia alone. Other liver tests called transaminases are also elevated. In fact by the time significant hyperbilirubinemia develops patients are quite advanced in their disease and have many other signs, symptoms and laboratory abnormalities.
Some patients can develop fatigue and joint pains as you have described, however these symptoms are not specific for hemochromatosis. These are common medical conditions that may be simultaneously present just by chance.
If you are concerned about hemochromatosis a set of blood tests called iron studies can be performed. However, it is entirely possible that your doctor has already checked iron studies as part of your diagnostic work up.
I would advise you to talk to your doctor and discuss in greater detail the results of your blood tests. This may help in you understanding the rationale for his/her diagnosis.
This information is provided for educational purposes only. Always consult your personal physician for specific medical questions.
*keywords: jaundice, Gilbert's disease, hemochromatosis