Rare Disease

Acute Hepatic Porphyria (AHP)

Acute Hepatic Porphyria is a family of rare genetic diseases characterized by potentially life-threatening attacks and chronic pain that interfere in their ability to live normal lives.

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Autoimmune Hepatitis (AIH)

Autoimmune hepatitis is a disease in which the body’s own immune system attacks the liver and causes it to become inflamed. If untreated, it can lead to cirrhosis and liver failure.

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Gilbert Syndrome

Gilbert Syndrome is a mild genetic disorder in which the liver does not properly process a substance called bilirubin. Bilirubin is made by the break down of red blood cells.

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Hemochromatosis

Hemochromatosis is an inherited condition in which the body absorbs and stores too much iron that builds up in several organs, especially the liver, and can cause serious damage.

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Lysosomal Acid Lipase Deficiency (LALD)

Lysosomal acid lipase deficiency affects the body’s ability to produce this enzyme needed to breakdown fat and cholesterol. When LAL is missing, fats accumulate and lead to liver and heart disease.

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Primary Biliary Cholangitis (PBC)

Primary biliary cholangitis (PBC) is a chronic liver disease resulting from progressive destruction of the intrahepatic bile ducts in the liver.

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Primary Sclerosing Cholangitis (PSC)

Bile ducts become blocked due to inflammation and scarring or fibrosis, accumulating in the liver, where it gradually damages liver cells and causes cirrhosis, or fibrosis of the liver.

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Wilson's Disease

Wilson Disease causes the body to retain excess copper. The liver of a person who has Wilson Disease does not release copper into bile as it should.

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