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Primary Biliary Cholangitis (PBC)

What is Primary Biliary Cholangitis (PBC)?

Primary Biliary Cholangitis (or PBC) is a chronic and progressive liver disease resulting from the slowly destruction of the liver bile ducts.  Among other substances the liver produces bile acids, compounds that help to digest the fats and oils that we eat. These bile acids are secreted into the small intestine through the biliary tract. The term cholangitis refers to the inflammation of this biliary tract. In time, the inflammation and destruction of the biliary ducts may cause scarring of the liver tissue what often can lead to chronic liver failure.

The cause of PBC is unknown, but it is thought to be related to autoimmunity, a condition in which our natural defences attack the body’s own tissues. It affects primarily women and usually onsets between the fourth and sixth decade of life.

 

 

Synonyms

  • Primary Biliary Cirrhosis
  • PBC

Primary Biliary Cholangitis (or PBC) is a chronic and progressive liver disease resulting from the slowly destruction of the liver bile ducts.  Among other substances the liver produces bile acids, compounds that help to digest the fats and oils that we eat. These bile acids are secreted into the small intestine through the biliary tract. The term cholangitis refers to the inflammation of this biliary tract. In time, the inflammation and destruction of the biliary ducts may cause scarring of the liver tissue what often can lead to chronic liver failure.

The cause of PBC is unknown, but it is thought to be related to autoimmunity, a condition in which our natural defences attack the body’s own tissues. It affects primarily women and usually onsets between the fourth and sixth decade of life.

 

Acknowledgement of Primary Biliary Cholangitis (PBC) has not been added yet.

The prevalence of PBC varies between genders, being 65.4 cases for women and 12.1 cases for men respectively per 100,000 population. Prevalence is the number of people who have a disorder at one time in a specific population (e.g. in the United States).

Name Abbreviation
Primary Biliary Cirrhosis PBC
PBC PBC

The disease is autoimmune in nature. The immune system, normally in charge of defending the body against external threats attacks the own bile ducts (the tubes that transport the bile acids from the liver into the intestine). In time, this leads to the destruction of the bile ducts and eventually to a condition known as cholestasis, the inability of the bile to flow into the intestine. This bile that accumulates in the liver causes inflammation and a progressive destruction of the liver tissue that in some cases can end in chronic liver failure.

The underlying cause that makes the autoimmune reaction begin is unknown. Genetic studies have established an association between certain HLA (human leukocyte antigen) class II alleles and the risk to develop PBC. These HLA genes serve as the blueprint for producing proteins that are in charge of indicating the immune system what is external to the body and hence has to be attacked. In between different individuals these genes can be slightly different, and each variant is denominated an allele. The DRB1* 08 HLA class II allele is associated with PBC and is considered as predisposing whereas DRB1* 11 and DRB1* 13 are thought to be protective alleles. However, only a small fraction of the people with PBC present this genetic variant, suggesting that other genes or environmental causes should be involved.

 

The most common and early symptoms of PBC are fatigue and itching of the skin (pruritus). What induces this fatigue is unknown, it does not disappear with the current PBC treatments available and depending on its severity it can affect the quality of life. The underlying cause of the itching is also unknown and again, it may persist after treatment. Some patients also experience sicca syndrome or dry eyes/mouth.

Other symptoms that appear as the disease advances to cirrhosis (Stage 4)are:

  • Abdominal pain (usually in the right upper quadrant)

  • Hyperpigmentation (darkening of the skin)

  • Jaundice: yellowing of the skin and/or the eyes

  • Xanthomas and xanthelasmas: the accumulation of fat bumps under the skin in the case of xanthomas or around the eyes in the case of xanthelasmas.

  • Hepatic Encephalopathy (HE): the buildup of toxins in the blood due to the inability of the liver to get rid of them may affect some brain functions.

Also, at the final stage, other symptoms characteristic of cirrhosis appear including spider nevi (benign vascular spider-shaped lesions in the skin), palmar erythema (reddening of skin of the palm of the hands), ascites (a swelling of the abdomen due to liquid accumulation) and edema (inflammation of the feet and legs).

Some people with PBC can develop additional complications. These include deficiencies in fat soluble vitamins, osteoporosis (a decreased formation of the bones which can result in fractures), hypercholesterolemia and hyperlipidemia (elevated levels of cholesterol and lipids in the blood), renal tubular acidosis (an accumulation of acids in the blood because the kidneys are not able to excrete acids in the urine) and liver cancer among others.

 

Name Description
Fatigue Fatigue
Pruritus Pruritus is itchy skin.
Jaundice Jaundice is yellowing of the eyes and skin due to increased bilirubin in the blood.
Xanthelasmata Xanthelasmata is focal collections of cholesterol in the skin.

When PBC is suspected (either by the presence of early symptoms or for abnormal liver results over a period of six months or more in a routine blood test) and other causes of cholestasis have been ruled out, the diagnosis is confirmed by the presence of antimitochondrial antibodies (AMAs) in the blood. In the case of a negative AMA test result or other reasons, a liver biopsy may be taken to look at the liver cells under a microscope in order to make a definitive diagnosis.

The diagnosis is made by performing a blood test and analyzing the presence of antimitochondrial antibodies in the serum. If the test is positive, a PBC diagnosis is made.

The standard treatment for PBC is ursodeoxycholic acid (UDCA), a bile acid that improves the flow of bile from the liver into the small intestine. This UDCA is commercialized as Urso®, Ursodiol (generic) or Actival®. The adherence and continuation of this treatment helps to delay the liver damage associated with PBC. However, there are patients in which UDCA treatment is not enough to control the disease and some that just can not tolerate UDCA. For these cases obeticholic acid (commercialized as Ocaliva®) has been recently approved either alone or in combination with UDCA. Ocaliva® cannot be used in patients with complete biliary obstruction. In the case of end-stage disease, a liver transplant is needed.

These treatments do not improve some symptoms of the disease such as fatigue and itching. If it is necessary, the itching can be treated separately with antihistamines or cholestyramine.

 

Name Description
Ursodiol Ursodiol, Urso, Urso Forte, Actigal
Ocaliva Ocaliva is a Farnesoid X receptor (FXR) agonist. For primary biliary cholangitis, as monotherapy in adults unable to tolerate ursodeoxycholic acid or in combination with ursodeoxycholic acid in adults with inadequate response to ursodeoxycholic acid. Dose adjustments may be necessary with intolerable pruritus.

PBS is a chronic disease that can not be cured, but the treatments that have become available are increasing the ability to control its progression. The prognosis can vary from patient to patient and will depend on the severity of the symptoms, the degree of liver malfunction and the appearance of associated complications. Nevertheless, the life expectancy for individuals with PBC has increased with the advancements in treatment and new and improved treatments are currently been investigated.

It is recommended to visit the doctor regularly, have blood and imaging tests periodically to monitor the progress of the disease and treat potential complications when they arise.

It is recommended that PBC patients adhere to a medication treatment plan with their doctors. Medication is the only way to slow the progression of PBC at this time.

It is also recommended to seek support through a PBC patient group such as the PBCers Organization, Inspire or Rareshare PBC community. Support and resources are available to patients with PBC to help them live with it.

 

Name Description
Pruritus or Itching Keep skin hydrated, use fragrance and dye free products, wear loose clothing, and if you need help to manage your itching, talk with your doctor for assistance.
Fatigue Why PBC patients suffer fatigue is unknown but over half report significant fatigue. PBC fatigue is unique and is described as "walking through concrete" by patients. It can be very challenging to manage. Staying moderately active, eating a healthy diet and maintaining good sleep habits help many. Talk with your doctor for tips to help manage fatigue.
Autoimmune Disease Because PBC is considered an autoimmune disease, you may be at risk for additional autoimmune diseases. Common among PBC patients are hypothyroidism (Hashimoto's Disease), dry eyes and mouth (Sicca Syndrome, Sjogren's Syndrome), CREST, and another liver disease known as Autoimmune Hepatitis is present in approximately 5-15% of PBC patients.

Huang, Y. Q. (2016). "Recent advances in the diagnosis and treatment of primary biliary cholangitis." World J Hepatol 8(33): 1419-1441.

Joshita, S., et al. (2017). "Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis." J Immunol Res 2017: 3073504.

Medscape: emedicine.medscape.com/article/171117-overview

American Liver Foundation: www.liverfoundation.org/abouttheliver/info/pbc

FDA Labeling Requirements for Ocaliva®: https://www.accessdata.fda.gov/drugsatfda_docs/label/2016/207999s000lbl.pdf

Hello Created by BuckB10
Last updated 1 Mar 2009, 02:58 AM

Posted by follender
1 Mar 2009, 02:58 AM

I think the site is going to have to get a lot more publicity for it to be viable. When I next go to NIH (June) I'm going to ask if any of the doctors will be willing to be the "expert". If you know of someone who would be willing sooner, don't hesitate to ask! Hope you are all well. rochelle

Posted by bnoveau
27 Feb 2009, 03:44 AM

Hi Buck. It's been a while. Hope you are well. I also found this site through Rochelle. Interesting idea. Barbara

Posted by BuckB10
12 Feb 2009, 04:27 AM

Thanks to Rochelle, I decided to sign up for this new forum. I live in Maryland and have been active with the local chapter of the ALF. It is going through some changes now, but may present an opportunity to educate others on PBC, while raising Funds for the Cure through the ALF. Let me know if anyone is interested in future activities. Buck B 66yrs; Md/Mt; dx'd 1987; stage 2/3

Community External News Link
Title Date Link
Community Resources
Title Description Date Link
PBCers Organization

PBCers Organization is a source of education and support for those who suffer from Primary Biliary Cirrhosis and other autoimmune liver diseases.

03/20/2017

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

Community Leaders

PBC Advocate

As a patient with Primary Biliary Cholangitis or PBC, the advocacy work I undertake is more than just talk. Living with a rare disease like PBC is a challenge and yet with new treatments the future is brighter than ever before. Having a voice in advocacy with other patient groups, researchers, pharmaceutical companies and local, state, and national government provides a unique perspective. I advocate on behalf of PBC patients to communicate the urgent need for sustained funding and continued research.

 

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Created by BuckB10 | Last updated 1 Mar 2009, 02:58 AM


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