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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Does The Following Test Result Mean?

Male 27 years old Ferritin level 100.7 mg/ml Bilirubin direct 0.5 mg/dl and indirect 3.5 mg/dl Ceruloplasmin 0.156 m IU/ml (considered abnormal low based on result. Normal range 4-36) ALT 20 u/l AST 16 u/l Scleras not clear and white as before and sometimes turn yellowish when I get tired. Sometimes numbness and slight burning in upper right abdomen My main concern based on the result is it possible to have too low ceruloplasmin level? and bilirubin would indicate any liver disease?? Thank you
Tue, 28 Jun 2016
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General & Family Physician,  's  Response
Hi & Welcome to HCM.
The history and the lab test results are suggestive of Wilson disease.
It's a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. It is often fatal if not recognized and treated when symptomatic.
The treatment involves lifelong use of Chelating agents (Penicillamine or Trientine) which decrease the blood copper level and thus reduce the morbidity and mortality.
You are advised to consult a physician for further evaluation and treatment.
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What Does The Following Test Result Mean?

Hi & Welcome to HCM. The history and the lab test results are suggestive of Wilson disease. It s a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. It is often fatal if not recognized and treated when symptomatic. The treatment involves lifelong use of Chelating agents (Penicillamine or Trientine) which decrease the blood copper level and thus reduce the morbidity and mortality. You are advised to consult a physician for further evaluation and treatment.