Rare Liver Diseases

There are many types of rare liver diseases. Some more common ones include: Alagille Syndrome, Acute Hepatic Porphyria, Biliary Atresia, Crigler-Najjar Syndrome, Galactosemia, Glycogen Storage Disease, Lysosomal Acid Lipase Deficiency, Primary Biliary Cholangitis, Primary Sclerosing Cholangitis and Wilson Disease.

Rare diseases are those which affect a small number of people compared to the general population. In the United States, a disease is considered rare if it affects fewer than 200,000 people in the U.S. at any given time. The European Liver Patients' Association (ELPA) estimates the incidence of rare liver diseases in all geographical areas at about 1 per 50,000 to 1 per 100,000 births, but the exact prevalence is unknown.

Wilson Disease

  • About one in 30,000-40,000 people have Wilson disease worldwide. About 2,000-3,000 cases have been diagnosed in the U.S.
  • Some people with Wilson Disease may not develop signs or symptoms of liver disease; a minority will develop acute liver failure. Some with Wilson disease only have symptoms if they develop chronic liver disease and complications from cirrhosis.
  • Liver disease is usually the first sign of Wilson disease in children and young adults. It is caused by a genetic disorder of copper build-up in the liver. Copper can also build up in the brain, pancreas, heart and other organs. Symptoms are often mistaken for other neurological, liver, or psychiatric conditions or diseases. If a patient presents with liver disease, the most common mistaken diagnosis is viral hepatitis. Nervous system or psychiatric problems are often the initial features in individuals diagnosed in adulthood and commonly occur in young adults with Wilson disease.
  • Approximately one in 90 people may be carriers of the Wilson disease gene.

Alpha-1 Antitrypsin Deficiency

  • Alpha-1 Antitrypsin Deficiency (AATD, Alpha-1, inherited emphysema, genetic emphysema) affects about 1 in 1,500 to 3,500 individuals with European ancestry. It affects the lungs (emphysema) and the liver (cirrhosis). Patients with at risk genes typically develop symptoms in adulthood.
  • AATD affects approximately 100,000 people in the U.S.
  • Patients with at risk genes typically develop symptoms in adulthood.

Alagille Syndrome

  • Alagille Syndrome (ALGS) is a rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. It occurs in about one of every 30,000-45,000 live births. The disorder affects both sexes equally and shows no geographical, racial, or ethnic preferences. ALGS presents in infancy, as opposed to many of the other rare liver diseases.
  • One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts.

Primary Sclerosing Cholangitis (PSC)

  • Primary sclerosing cholangitis (PSC) is a disease of the bile ducts. Approximately 70%–80% of patients with PSC have inflammatory bowel disease (IBD), ulcerative colitis or Crohn’s disease, with the majority (80%) suffering from ulcerative colitis.
  • PSC affects males twice as often as females, and most often occurs in middle-aged adults. The incidence and prevalence of the disorder is unknown, but one estimate places the incidence a 1 per 100,000 people in the U.S. and Europe.
  • Despite being classified as a “rare” disease, PSC is the fifth leading cause of liver transplantation (LT) in the U.S. Some studies indicate that PSC is on the rise.

Primary Biliary Cholangitis (PBC)

  • Primary biliary cholangitis (primary biliary cirrhosis) is a chronic disease that slowly destroys the bile ducts in your liver and can have no symptoms.
  • There are fewer than 200,000 PBC cases in the U.S. per year. PBC mostly affects women and appears usually in middle age. There is no cure, but treatment can help delay the condition’s progression and manage complications. A liver transplant may be required in severe cases.

Hereditary Hemochromatosis

  • Hereditary hemochromatosis is a rare genetic disease that causes your body to absorb too much iron from your diet. The excess iron, stored in your organs, especially your liver, heart and pancreas, can lead to life-threatening conditions, such as liver disease, heart problems and diabetes. Doctors can treat hereditary hemochromatosis by periodically removing blood from your body (phlebotomy), as if you were donating blood, to reduce your iron levels to normal.
  • Hereditary hemochromatosis is the most common autosomal recessive disorder in whites. It has a prevalence of 1 in 300 to 500 people of northern European descent.

Last updated on August 5th, 2022 at 12:44 pm

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