Rare Liver Diseases

Liver diseases are referred as rare when they affect a small percentage of the general population. Theycan be either genetic (inherited) or auto-immune. Following is a list of some of the more common rare liver diseases:

PBC – Primary Biliary Cholangitis– is mainly found in women and onset is usually found in middle aged women. It affects bile ducts inside the liver. There are treatments available.

PSC-Primary Sclerosing Cholangitis is found more in men (60:40), can be found at all ages and affects the bile ducts inside and outside of the liver. 80 % percent of the patients also have Inflammatory Bowel Disease. Today there are still no effective treatments.

AIH – Auto immune Hepatitis -A chronic disease that causes inflammation in liver when the body’s immune system attacks liver cells. This results in scarring of the liver and finally to liver failure. Treatments can help manage condition, no known cure.

ICP – IntrahepaticCholestasis of Pregnancy, commonly known as cholestasis of pregnancy, is a liver condition that occurs in late pregnancy. The condition triggers intense itching, but without a rash. Itching usually occurs on the hands and feet but can also affect other parts of the body. Cholestasis of pregnancy can make you extremely uncomfortable.

Wilson disease. A genetic disorder causing excessive copper accumulation in the liver, brain and other organs. Most people with Wilson’s disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.Wilson disease is fatal without medical treatment. There is no cure, but the condition can be managed. Treatment options include medications, chelation therapy and avoiding foods high in copper.

Acute Hepatic Porphyria,the acute hepatic porphyria is a group of four inherited disorders, each resulting from a deficiency in the activity of a specific enzyme in the heme biosynthetic pathway. In the majority of European countries, the prevalence of acute hepatic porphyria is around 1/75,000. In 80% of cases the patients are female, with the majority aged between 20 to 45 years.

LAL-D – Lysosomal Acid Lipase Deficiency, 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 the human 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.

Alagille Syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts

Biliary Atresia is a rare disease of the liver and bile ducts that occurs in infants. Symptoms of the disease appear or develop about two to eight weeks after birth. Cells within the liver produce liquid called bile.

PFIC- Progressive familial intrahepatic cholestasis is a group of rare disorders which are caused by defect in bile secretion and present with intrahepatic cholestasis, usually in infancy and childhood. These are autosomal recessive in inheritance. The estimated incidence is about 1 per 50,000 to 1 per 100,000 births, although exact prevalence is not known. These diseases affect both the genders equally and have been reported from all geographical areas.

 

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