Liver Disorder Hemochromatosis Galactosemia

Besides hepatitis, cirrhosis and cancer, a number of other liver disorders exist. These disorders vary in severity from life threatening to mild. Many of these disorders have a genetic basis and vary in severity from mild to life threatening. The following are some of the more common examples of liver disease.

Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency is a hereditary disorder. The mechanism by which this deficiency leads to cirrhosis is unknown. In some varieties of the deficiency, alpha-1 antitrypsin is produced but trapped in the liver cells, where excess amounts of the protein can cause cirrhosis.

In other organs like the lung, alpha-1 antitrypsin provides protection from damage by destructive enzymes. The disorder can lead to emphysema, even in non-smokers.

Hemochromatosis (Iron Overload)

Hemochromatosis, or iron overload, is a hereditary liver disease that causes the body to absorb too much iron. Iron overload damages internal organs and can cause cirrhosis. Left untreated, hemochromatosis can be fatal, but it can be successfully controlled if it is detected before organ damage occurs.

Wilson’s Disease

Wilson’s disease causes the body to store too much copper in the liver and brain. Wilson’s disease is often mistaken for viral hepatitis, and it can be fatal if not diagnosed and treated. Treatment involves regular therapy to remove copper from the body.

Galactosemia

Galactosemia is an inherited disorder that causes cirrhosis and serious illness in infants unless diagnosed quickly. The body lacks the liver enzyme necessary to prevent the blood sugar galactose from building up in the bloodstream. Treatment for galactosemia requires life-long adherence to a galactose-free diet.

Glycogen Storage Disease

In glycogen storage disease, the body stores excess amounts of glycogen in the liver and muscles, leading to hepatotoxocity chemical-driven liver damage), muscle weakness and cramps.

Eleven different types of glycogen storage disease exist: each one can be traced to an enzyme deficiency that affects blood sugar levels. The body cannot use available glucose for energy, as glucose is stored in the liver in the form of glycogen.

Gilbert Syndrome

A mild disorder that does not usually require treatment, Gilbert Syndrome prevents bilirubin from being processed correctly. A person with Gilbert Syndrome may experience jaundice during times of stress, physical exertion or infection. The disorder doesn’t usually cause serious symptoms.

Hemangioma

Not all cancerous tumors are malignant: benign tumors called hemangioma can occur in the liver’s blood vessels. As hemangiomas don’t cause adverse symptoms, they’re usually just left alone. Occasionally a hemangioma bleeds and has to be removed surgically.

Resources

Alpha-1 Association. (2002). Alpha-1-antitrypsin deficiency: A simplified Description.

American Hemochromatosis Society. (updated 2002). FAQs about hemochromatosis/iron overload.

American Liver Foundation. (2003). Galactosemia.

Association for Glycogen Storage Disease. (nd). What is glycogen storage disease (GSD)?

Beers, M. H.,