What condition is associated with low serum ceruloplasmin?

Low serum ceruloplasmin is primarily associated with Wilson's disease, a genetic disorder that leads to the accumulation of copper in various body tissues, particularly the liver and brain. In Wilson's disease, mutations in the ATP7B gene impair the body's ability to excrete copper into bile and incorporate it into ceruloplasmin, which is the main copper-carrying protein in the blood. As a result, there is a deficiency of ceruloplasmin in the serum, reflecting the body's inability to manage copper properly.

In contrast, the other conditions listed do not typically lead to low serum ceruloplasmin levels. Hemochromatosis, primarily associated with iron overload, usually does not affect ceruloplasmin levels directly. Alpha-1 antitrypsin deficiency primarily impacts lung and liver function due to a deficiency of alpha-1 antitrypsin protein, but it does not cause low ceruloplasmin. Cholestatic liver disease can lead to various lab abnormalities, but it is not specifically associated with a decrease in ceruloplasmin as underlying copper metabolism is not directly disrupted.

Thus, understanding the biochemical defects in Wilson's disease highlights why low serum ceruloplasmin is indicative of this condition and helps