Can liver function tests detect hereditary diseases?

Generally, whether genetic diseases can be detected through liver function tests depends on the type of genetic disease. A detailed analysis is as follows:

For genetic diseases that primarily manifest as abnormal liver function, such as Wilson's disease and hereditary hemochromatosis, liver function tests may reveal abnormalities. These conditions directly affect the liver's metabolic and synthetic functions, leading to abnormal levels of indicators such as bilirubin, transaminases, and ceruloplasmin in the blood. Changes in these liver function indicators can provide important clues and guide further diagnosis.

For genetic diseases not primarily characterized by liver damage, such as hemophilia and achondroplasia, liver function tests typically cannot detect abnormalities. The pathological sites and mechanisms of these diseases are unrelated to the liver, and liver function indicators generally remain normal. Therefore, they cannot be identified through liver function tests and require targeted diagnostic methods such as genetic testing and chromosome analysis.

When undergoing a liver function test, if screening for genetic diseases is desired, it is important to inform the doctor in advance about family medical history to assist in determining whether additional tests are necessary. If test results are abnormal, do not interpret them on your own; instead, consult a qualified physician who will analyze clinical symptoms and other test results comprehensively. If a hereditary liver disease is suspected, early genetic testing is recommended for a definitive diagnosis.