Rare Disease Awareness Day: What is Primary Biliary Cholangitis (PBC)

Today is an awareness day for rare diseases, so we're helping raise awareness about Primary Biliary Cholangitis, known as PBC. It’s an autoimmune disease where a person's own immune system attacks the liver.

"In this disease, the focus of attack is the small bile ducts within the liver, and bile ducts are part of the plumbing system of the liver. They bring out materials necessary for your digestion because they flow to your gut and they also get rid of waste products and when they are inflamed, and ultimately in this disease destroyed, it backs up the plumbing and that causes an obstruction of bile flow, we call cholestasis. It disrupts the physiology and it doubles down on the consequences of inflammation and with major scar tissue decreases the life expectancy for a patient, unless they have a liver transplant, so this is a serious disease," states Dr. John Vierling. He is a Professor of Medicine and Surgery, also the Chief of Hepatology, as well as the Director of Advanced Liver Therapies, Clinical Research Unit devoted to finding cures for adult liver diseases, with Baylor College of Medicine.

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Dr. Vierling says PBC often advances to late stage before someone even realizes it, because they either don't suffer from any symptoms or the symptoms are so vague, including fatigue and itchy skin, they may either ignore the warning signs or go to the wrong specialist, looking for help.

Dr. Vierling explains PBC is rare, yet not all that rare.

"One out of every 1,000 women aged 40 or over has this disease. So that is, in some people's minds going to look more common. If we look at the number of cases in the Greater Houston area based on U.S. demographics, which are pretty imperfect because we don't have a national database, in women, it's about 60 per 100,000 and in men, it's going to be closer to 400,000 because there are about nine women for every one man who has this disease," states Dr. Vierling. 

We talked to Carol Roberts, who was diagnosed with PVC in 1999.

"I was one of the unfortunate ones at the time that didn't get diagnosed until I was in late stage disease and I already had cirrhosis of the liver. I began taking the approved treatment at the time, even though they weren't sure it would be very effective because it was newly approved at that time for patients. It got me stable. I remained pretty well stable without any complications of sclerosis for over 20 years, until the end of 2020, when some reason, it decided it was no longer going to work for me and I was referred for transplant," explains Carol.

She got her transplant around nine months ago and is doing well!

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Carol helps many patients dealing with this disease through an organization called the PBC'ers.

"After attending as just a patient, they got me involved in the organization and eventually, I became the head of the organization last year, just at the same time as my liver failed, because we lost our founder to pancreatic cancer at that time. It was founded by Linie Moore, who is was a resident near Houston, so our official home of our world-wide non-profit is in the Houston area," explains Carol.

Dr. Vierling says more treatments are needed to prevent more patients from needing a transplant. Now he's conducting a clinical trial at Baylor College of Medicine called the Response study, to study Seladelpar, to see if it can improve PBC-related laboratory blood results and symptoms of PBC, such as itching.


"It's entirely voluntary in terms of the participation. So we want a lot of people to seek information or some people who may not be able to participate in the trial, but we'd love to talk to them and see their points of view, as well as those who are interested," says Dr. Vierling.

For this clinical trial, you can go to: https://www.pbcstudies.com

To find out if there's a clinical trial for any type of disease, you can check out: https://clinicaltrials.gov