Rare Liver Diseases
ACUTE HEPATIC PORPHYRIA
Porphyria refers to a group of diseases that affect fewer than 200,000 people. Acute Hepatic Porphyria (AHP) refers to a family of rare genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic (ongoing and sometimes lifelong) pain and other symptoms that interfere in their ability to live normal lives.
ALPHA-1 ANTITRYPSIN DEFICIENCY
Alpha-1 antitrypsin deficiency (Alpha-1) is a hereditary genetic disorder which may lead to the development of lung and/or liver disease. It is the most common genetic cause of liver disease in children. Adults can also be affected by Alpha-1 and may develop lung conditions such as emphysema as well as liver problems. Fortunately, many persons diagnosed with Alpha-1 never develop any of the associated diseases.
Alagille Syndrome is an inherited disorder that closely resembles other forms of liver disease seen in infants and young children. However, a group of unusual features affecting other organs distinguishes Alagille Syndrome from the other liver and biliary diseases of infants
Autoimmune hepatitis is a disease in which the body’s own immune system attacks the liver and causes it to become inflamed. The disease is chronic, meaning it lasts many years. If untreated, it can lead to cirrhosis and liver failure.
BILE DUCT CANCER
One of the many functions of the liver is the production and transmittal of bile. Bile is the fluid necessary for the breakdown of food during the digestive process. The small tubes that conduct bile from the liver to the gallbladder to the intestines are “ducts”. Bile duct cancer (cholangiocarcinoma) is the formation of malignant (cancerous) tumors in these tubes or ducts.
Biliary Atresia is a disease of the bile ducts that affects only infants. Bile is a digestive liquid that is made in the liver. It travels through the bile ducts to the small intestine, where it helps digest fats.
Budd-Chiari Syndrome is disorder in which veins carrying blood out of the liver become narrow and/or blocked due to blood clots. In a healthy person, blood normally flows from the intestines to the liver through the hepatic portal vein and then out of the liver through the hepatic veins and into the inferior vena cava, the large vein that flows back to the heart. When the blood cannot flow out of the liver in a normal manner, it backs up within the liver. When Budd-Chiari Syndrome occurs, the backed-up blood creates high blood pressure back to the portal vein. This condition is known as portal hypertension.
Crigler-Najjar syndrome (CNS), named for the two physicians who first described the condition in 1952, John Crigler and Victor Najjar, is a rare, life-threatening inherited condition that affects the liver. CNS is characterized by a high level of a toxic substance called bilirubin in the blood (hyperbilirubinemia).
Galactosemia is an inherited disorder that prevents a person from processing the sugar galactose, which is found in many foods. Galactose also exists as part of another sugar, lactose, found in all dairy products.
Gilbert Syndrome is a mild genetic disorder in which the liver does not properly process a substance called bilirubin. Bilirubin is made by the breakdown of red blood cells.
Gilbert Syndrome affects three to seven percent of people in the United States. Gilbert Syndrome is more common in men than women.
Hemochromatosis is one of the most common genetic disorders in the United States. It is an inherited condition in which the body absorbs and stores too much iron. The extra iron builds up in several organs, especially the liver, and can cause serious damage. Without treatment, the disease can cause these organs to fail.
HEPATORENAL SYNDROM (HRS)
Hepatorenal Syndrome (HRS) is a life-threatening condition that affects kidney function in people with advanced liver disease. HRS is most common in people with advanced cirrhosis (or scarring of the liver) and ascites, an abnormal buildup of fluid in the abdomen that is often related to liver disease. But the syndrome can also occur in people with fulminant hepatic failure (acute liver failure) and other types of diseases of the liver.
HEPATITIS D (DELTA)
Hepatitis delta is a largely blood-borne inflammatory liver disease dependent on hepatitis B. Hepatitis delta occurs only in the presence of the hepatitis B virus (HBV).
INTRAHEPATIC CHOLESTASIS OF PREGNANCY (ICP)
This condition affects the normal flow of bile. Bile acids are chemicals in the bile of the liver that help with digestion. With ICP the bile flow begins to slow down and the bile acids build up in the blood. This results in the woman itching that can vary in severity and type. The itching can be bothersome to severe itching and is often worse at night. There is rarely jaundice when experiencing this condition. Although it has been reported as early as 5 weeks pregnant, it is more common for it to begin in the third trimester, when hormone concentrations are at their highest levels. The figure for the percentage of women for whom Intrahepatic Cholestasis of Pregnancy will recur in future pregnancies is 60% or as high as 90% for severe ICP.
LYSOSOMAL ACID LIPASE DEFICIENCY (LALD)
Lysosomal acid lipase deficiency (LALD) is a rare, chronic, progressive inherited disorder. It affects the body’s ability to produce an enzyme called lysosomal acid lipase (LAL). This enzyme is needed for the breakdown of fats (lipids) and cholesterol in your cells. When the LAL enzyme is missing or deficient, fats accumulate in organs and tissues throughout the body, primarily leading to liver disease and high “bad cholesterol,” which is linked to cardiovascular disease.
PRIMARY BILIARY CHOLANGITIS (PBC)
Primary biliary cholangitis (PBC), formerly known as primary biliary cirrhosis, is a chronic liver disease resulting from progressive destruction of the intrahepatic bile ducts in the liver.
Bile produced in the liver travels via these intrahepatic ducts to the small intestine. Here, it aids in the digestion of fat and fat-soluble vitamins (A, D, E and K). When the ducts are destroyed, bile builds up in the liver contributing to inflammation and fibrosis - or scarring.
As scar tissue replaces healthy liver tissue, liver function becomes impaired, which can lead to cirrhosis and its associated complications.
Although there is no cure for PBC, there is medication available to manage the disease, its symptoms, and slow the progression of damage to the liver.
PRIMARY SCLEROSING CHOLANGITIS (PSC)
Primary Sclerosing Cholangitis (PSC) is a chronic, or long-term, disease that slowly damages the bile ducts. Bile is a digestive liquid that is made in the liver. It travels through the bile ducts to the gallbladder and the small intestine, where it helps digest fats and fatty vitamins.
Reye Syndrome is a rare illness that affects all bodily organs but is most harmful to the brain and the liver. It occurs primarily among children who are recovering from a viral infection, such as chicken pox or the flu. It usually develops a week after the onset of the viral illness but can also occur a few days after onset. Liver-related complications of Reye syndrome include fatty deposits, abnormal liver function tests, and poor blood clotting and bleeding caused by liver failure.
TYPE I GLYCOGEN STORAGE DISEASE
Type I glycogen storage disease (GSD I), also known as von Gierke’s disease, is the most common form of glycogen storage disease, accounting for 25% of all cases. It is an inherited disorder that affects the metabolism – the way the body breaks food down into energy.
Wilson Disease is an inherited condition that 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. As the copper builds up in the liver, it begins to damage the organ.
After enough damage, the liver releases the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson Disease can cause severe brain damage, liver failure, and death.