Tuesday, June 12, 2012

Genetics Home Reference: Primary Sclerosing Cholangitis

Primary sclerosing cholangitis is a condition that affects the bile ducts. These channels have bile (a fluid that helps Digest fats) from the liver where bile produced: cholecystitis, where the butter is held and intestine where it AIDS in digestion. Primary sclerosing cholangitis occurs due to inflammation of the bile ducts (cholangitis), which leads to scarring (sclerosis) and narrowing of tubes. As a result of the bile cannot be released cholecystitis and intestine and builds in the liver.

Primary sclerosing cholangitis is usually diagnosed around 40 years, and for unknown reasons, it affects men twice as often as women. Many people have no signs or symptoms of status when they are diagnosed, but routine blood tests disclose problems of the liver. When visible, the earliest signs and symptoms of Primary Sclerosing Cholangitis include extreme tiredness (fatigue), abdominal discomfort and severe itching (Pruritus). As the condition worsens, the people affected by the disease may develop yellowing of the skin and white eyes (Jaundice), and an enlarged spleen (Splenomegaly). Finally, arms bile loss of liver cells, causing chronic disease of the liver (cirrhosis) and liver failure. Without bile available to them fats go through the body. As a result may experience loss of weight and shortage of vitamins, which are absorbed and stored in fats (includes vitamins). They include vitamins, vitamin d helps absorb calcium and helps the bones harden, a lack of this vitamin can cause Thinning of bones (osteoporosis) in men with Primary sclerosing cholangitis.

Primary sclerosing cholangitis is often associated with another condition called INFLAMMATORY BOWEL DISEASE, which is characterized by inflammation of the intestines that causes open sores (ulcers) in the intestines and abdominal pain. It is clear, however, the reason for this link. Around 70% of people with Primary Sclerosing Cholangitis are inflammatory bowel disease, the most common form of the condition known as ulcerative colitis. In addition, the person Primary Sclerosing Cholangitis are more likely have autoimmune disorder such as diabetes mellitus type 1, celiac disease or thyroid disease than humans than people without the condition. Autoimmune disorders occur when the immune system malfunctions and attacks of organs and tissues of the body. People with Primary Sclerosing Cholangitis also have an increased risk of developing cancer, especially cancer bile ducts (cholangiocarcinoma).

An estimated 10,000 people 1 have Primary sclerosing cholangitis, a condition is diagnosed in approximately 1 in 100,000 people per year worldwide.

It is considered that the primary sclerosing cholangitis is the result of a combination of genetic factors and environmental protection. Researchers believe that genetic changes play a role in this condition, as often occurs in several family members and immediate family members of someone with Primary sclerosing cholangitis, have an increased risk of development of the State. It is likely that specific genetic differences increase the risk of people developing primary sclerosing cholangitis, and exposure to certain environmental factors trigger the disorder. However, the genetic changes which increases the susceptibility and environmental triggers, remain unclear.

There is evidence that variations in certain genes involved in immune function influence risk of developing primary sclerosing cholangitis. Most related genes belong to the family of genes known as the Antigen leukocyte count (HLA) complex. HLA complex helps the immune system to distinguish between proteins by the body with the proteins by foreign invaders (such as viruses and bacteria). Each HLA gene has many different variants of the normal, allowing each person the immune system to respond to a wide range of foreign proteins. Specific changes to several HLA genes seems to occur more frequently in people with Primary Sclerosing Cholangitis than people who do not have the disorder. These differences can dysregulate immune response units, leading to inflammation of the bile ducts in humans with Primary sclerosing cholangitis. However, this mechanism is not well understood. Scientists are studying the differences in other genes related to immune function units understand how they contribute to the risk of developing this condition.

The inheritance pattern of Primary Sclerosing Cholangitis is unknown, because many factors, genetic and environmental protection are probably involved. This condition tends to cluster in families, however, and having the victim family member is a factor of risk for developing the disease.

These resources Address the diagnosis or management of Primary sclerosing cholangitis, and may include treatment of suppliers.

You can also learn about the diagnosis or management of Primary Sclerosing Cholangitis educational resources and support to patients.

To locate a provider of health care, see how do I find a genetics professional in my area? in the manual.

The following resources with Primary Sclerosing Cholangitis may find useful. These materials are written for the general public.

Can also be interested in these resources, which are intended for health professionals and researchers.

For more information about names, see genetics Genetics Home Reference condition names guidelines and how genetic conditions and genes called? in the manual.

The manual contains basic information about genetics in clear language.

These links provide additional resources of modern genetics, which may be useful.

The resources on this page should not be used as a substitute for professional medical care or advice. Users seeking personal information of genetic disease, syndrome or condition, consult with a qualified professional care. See how you can find a genetics professional in my area? in the manual.


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