Low serum ceruloplasmin levels are characteristic of which condition?

Low serum ceruloplasmin levels are particularly characteristic of Wilson's disease, a genetic disorder that leads to excessive accumulation of copper in the body. In Wilson's disease, the ATP7B gene mutation impairs the liver's ability to excrete copper into bile and to incorporate copper into ceruloplasmin, which is the main copper-carrying protein in the bloodstream. As a result, ceruloplasmin levels in serum are significantly reduced. This reduction is a hallmark of Wilson's disease and is often used as a diagnostic criterion.

In contrast, conditions like hemochromatosis lead to iron overload and do not affect ceruloplasmin levels in the same way, while alpha-1 antitrypsin deficiency primarily concerns deficiencies in the protein that protects the lungs and liver rather than copper transport. Chronic liver failure can affect multiple parameters, but it does not specifically lead to low ceruloplasmin levels as a defining feature. In summary, the low serum ceruloplasmin levels directly indicate impaired copper metabolism, which is crucial for recognizing Wilson's disease.