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Genetic Liver Diseases

Overview

Mayo Clinic is a leading center for treatment of and research on genetic liver diseases such as Alpha-1-antitrypsin, hereditary hemochromatosis and Wilson's disease. A skilled team of physicians, including hepatologists, hematologists, medical geneticists, laboratory medicine and other specialists, screen thousands and treat hundreds of patients each year, for problems from benign cases of jaundice to severe disease that may require a liver transplant (See list of genetic liver diseases treated.) Should a liver transplant be necessary, Mayo performs more transplants than any other medical center.

Diagnosis

Mayo offers the latest in screening and diagnostic services for genetic liver diseases. Because these diseases are so complex, specialists work together for diagnosis and treatment, in collaboration with the patient's primary physician. Diagnostics may include blood tests or biopsies; other tests may include, urinalysis, ultrasound or X-rays. Family screening is important for diagnosis.

Treatment Options

Treatment depends on the disease, from Dubin-Johnson syndrome, which causes only mild jaundice and may be treated with medication, to more serious conditions that may require a liver transplant. Read more about genetic liver disease treatment options.

About Genetic Liver Diseases

More than 100 liver diseases are genetic (inherited). Some disease symptoms may be present in parents; other parents may have no symptoms, but their children may have the disease. Improved understanding of genetics has given great hope for the future for parents of children with inherited metabolic liver disorders (diseases related to the metabolism of protein or metals in the liver). In the future, gene therapy may allow doctors to treat a disorder by inserting a missing gene into a patient's cells instead of using drugs or surgery.

Photo of Jon Anglemyer

Patient Stories

Jon Anglemyer

A kidney-liver transplant cured Jon Anglemyer's hyperoxaluria, a rare kidney disorder. Now, 10 years after transplant, this active husband and father says, "It's all turned out how I hoped." Read Jon's story.

Read Jon's story.

See all patient stories related to Genetic Liver Diseases.

Read all patient stories.

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