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2017 Rare Disease Day

Rare Disease
28 FEBRUARY 2017

2017 Rare Disease Day

Because today is Rare Disease Day, the American Liver Foundation proudly dedicates this Liver Lowdown issue to those affected by rare liver diseases. This important day shines a spotlight on the challenges and victories of those diagnosed with any disease in the United States that affects fewer than 200,000 people. In fact, some impact only a handful. Whether you’re one of the few or part of many affected by a liver disease, ALF salutes you. Here are descriptions of noteworthy rare liver diseases. Click on any of them for in dept descriptions, including information on symptoms, treatment and how they’re diagnosed.


  • Alagille Syndrome is inherited and closely resembles other liver diseases in infants and kids but with unusual features affecting other organs.
  • Alpha-1 Antitrypsin is the most common genetic cause of liver disease in kids. Hereditary and genetic, it may lead to lung and/or liver disease.
  • Autoimmune Hepatitis is a disease in which the body’s immune system attacks the liver. It can lead to cirrhosis and liver failure if untreated.
  • Biliary Atresia is a disease of the bile ducts that affects only infants (see our story on Heidi and Deanna).
  • Budd-Chiari Syndrome obstructs veins that carry blood flow from the liver and occurs most alongside clotting disorders (i.e. in pregnant women or with tumors, chronic inflammatory diseases or infections).
  • Gilbert Syndrome is a mild genetic disorder in which the liver does not properly process bilirubin. It’s more common in men than women.
  • Primary Biliary Cholangitis (PBC) is a chronic liver disease caused by progressive destruction of the bile ducts in the liver. When the ducts are destroyed, bile builds up in the liver and can lead to cirrhosis.
  • Primary Sclerosing Cholangitis (PSC) is a chronic, or long-term, disease that damages bile ducts and can lead to bile duct cancer. Many with PSC will ultimately need a liver transplant 10 years after diagnosis.
  • Reye Syndrome occurs primarily in kids recovering from viral infections. It affects all organs but is most harmful to the brain and liver.
  • Wilson Disease is an inherited condition causing the body to retain excess copper. It can lead to severe brain damage, liver failure, and death, if not treated.
  • Lysosomal Acid Lipase Deficiency (LALD) is a rare, chronic, progressive inherited disorder affecting an enzyme that breaks down fats (lipids) and cholesterol in your cells.
  • Congenital Hepatic Fibrosis (CHF) is present at birth (congenital) and is characterized by an enlarged liver and spleen (hepatosplenomegaly). Individuals with this diagnosis have a higher risk of infection of the bile ducts (cholangitis), gallstones and cancer of the liver or gallbladder.

February 28th is #RareDiseaseDay 2017. Get involved and learn more here.

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