Have PBC? You May Be at Risk for Another Autoimmune Disease

April 20, 2020

It is not uncommon for people affected by primary biliary cholangitis (PBC) to have at least one other autoimmune condition. To learn more, we turned to Dr. Craig Lammert, an expert on autoimmune liver diseases at Indiana University School of Medicine.

How often do you treat people with autoimmune liver disease?

I treat many people with autoimmune liver disease. They make up about half of my practice. In my world, autoimmune liver disease starts to feel common, despite that fact that it’s rare.

How common is it for people with PBC to have or develop other autoimmune conditions?

It depends on what study you look at, and there have been a number of them. But a good rule of thumb is that at least half of all patients with PBC will have at least one other autoimmune condition. Of this group, about 10% to 20% will have two or more additional autoimmune conditions.

Which autoimmune conditions are commonly associated with PBC?

There are many autoimmune diseases associated with PBC. Three of the most commonly seen are:

  1. Sjogren’s syndrome is a disease that’s characterized by dry mouth, dry eyes and in some cases fatigue. We see Sjogren’s syndrome in about a quarter of patients with PBC.
  2. Raynaud’s phenomenon is characterized by intermittent and variable blood circulation into the hands or other extremities, particularly triggered by stress or cold weather. It can be a painful condition, where the constriction of arteries (or vasospasm) reduce blood flow to the skin. Up to a quarter of patients with PBC have Raynaud’s phenomenon.
  3. Autoimmune thyroid disease causes chronic inflammation of the thyroid gland and may affect its function. It’s estimated that about 15% of people with PBC also have autoimmune thyroid disease.

It’s helpful for those with PBC to be aware of these autoimmune conditions and others. In my own practice, I subscribe to an educational-partnership philosophy. I believe that a patient who is knowledgeable can be looking out for themselves — not only by understanding their disease, but also watching for symptoms of other conditions.

It’s also essential that health care providers be attune to these conditions because it may change the way that they treat PBC patients going forward.

Why do people with one autoimmune condition tend to develop other autoimmune conditions? Does one condition trigger another?

Trigger is probably not the right word to use.  One way to think about it is that autoimmune disease is a general theme. Underpinning that theme are genetic risk factors. Certain genetic risk factors that are associated with one autoimmune disease may also be associated with another. What I say in my clinic is that a person’s underlying genetics probably creates a fertile soil for autoimmune disease.

So how great a role do genes play in autoimmunity?

We believe that genes play a critically important role in the development of autoimmune diseases. However, if you look at conditions like PBC, we probably only understand about 10% to 15% of the true genetic risk. There’s probably a lot more genetic contribution in the form of what we call rare genetic variants.  Rare genetic variants alter gene function. Of course, there are also environmental risk factors to consider.

Can you explain more about environmental risk factors?

In what we call epidemiologic studies or association studies of environmental risk, we look for similarities among patients’ exposure to external or behavioral risks.

One such observation is that many people with PBC have a history of smoking at least 100 cigarettes in their lifetime. We also know that PBC patients often have had several urinary tract infections in their lifetime.

Such environmental consequences may speak to an underlying trigger to the disease or what the interaction is with the genetic risk that was already present in an individual.

Given these epidemiological studies is there anything people affected by PBC can do to prevent themselves from developing other autoimmune conditions?

I get this question often. Currently, there is no data to support that there is any modification of lifestyle that that can prevent the progression of autoimmunity. This topic is ripe for further research.

But I do think it is fair to say that nobody should smoke, particularly those at risk for PBC or autoimmunity. Ultimately, we may learn that smoking and PBC are connected and may have some impact on the development of liver fibrosis.

How do healthcare providers commonly approach treatment for individuals with so-called overlapping autoimmune conditions? Are there treatment options, for instance, that would be appropriate for both PBC and autoimmune hepatitis (AIH)? 

Let me address the PBC-autoimmune hepatitis (AIH) piece because this topic also comes up often. It’s worth noting that approximately 10% of PBC patients will have features of liver inflammation that are suggestive of autoimmune hepatitis on top of PBC. Historically, we have called this phenomena “PBC-AIH” or “overlap syndrome”

It’s important to know that these two diseases are treated very differently. PBC is treated with ursodeoxycholic acid, whereas AIH is treated with steroids and other immunosuppressants.

We don’t yet know whether a person is unlucky enough to have two separate or distinct liver diseases at one time or whether a patient can have features of PBC and AIH as a completely separate disease.

We  often see that patients with  overlap syndrome have one disease (PBC or AIH) as the most prominent.

It’s important for doctors to understand that if patients with PBC or AIH are not behaving like the classic form of either of these diseases, you should always think about an overlap syndrome.

Are there other types of overlap syndromes which people with PBC should be particularly aware?

Yes. PBC patients can have an overlap syndrome that doesn’t involve another autoimmune disease.  Along with PBC, they may have some other type of chronic liver disease, such as nonalcoholic fatty liver disease, newly renamed metabolic dysfunction-associated steatotic liver disease or MASLD. or alcohol-related liver disease.

What issues should people with multiple autoimmune liver diseases discuss with their doctors? 

If you compare patients with PBC, PSC and AIH to healthy individuals, their quality of life is often lower than others. They can struggle with what we call extrahepatic manifestations of these diseases— things like depression, anxiety, debilitating fatigue, poor sleep, itch and joint pain. Often these symptoms prevent patients from conducting normal daily activities — and I’m not just talking about working, but also enjoying their grandkids or going to that family outing, for instance.

As hepatologists, we know we can treat these diseases pretty reasonably. But as doctors and researchers, we need to better understand what kinds of things we can do to work with patients to better understand their quality of life.

How can we get patients to start talking to us liver doctors about their quality of life and what kinds of things can patients be doing to help improve their quality of life? I’m talking about things like practicing mindfulness, resiliency training, working on sleep hygiene or meeting with a psychiatrist or psychologist to get their anxiety or depression under better control.

That said, patients with autoimmune liver disease — whether overlapping phenomenon or not — should also advocate for themselves by talking to their doctors about quality-of-life issues and what they can do to make themselves feel better. If you are not speaking to your hepatologist about these issues, you may not be getting what you need out of those visits.

Also, patients should be speaking with their doctors about coming up with a good plan of surveillance to monitor for the development of further autoimmune conditions. This — along with having open discussions about quality of life — should make an impact on the way patients potentially feel emotionally and physically.

Today, people with rare diseases, such as AIH and PBC, have access to a lot more information about their conditions because of the digital world in which we live. But there’s also a lot of misinformation online. How do we reconcile this issue?

One of the reasons that I started the Autoimmune Hepatitis Association is to provide a clearinghouse of correct information. However, in my own practice, I encourage people to use the internet because, despite the fact that there’s misinformation online, you can also find some good information there.

Doing research online spawns excellent questions — including questions that some patients would never have thought to ask. At the end of the day, having those discussions creates a more-trusting, more-active relationship between doctor and patient. I love it when patients read and bring stuff to my office to discuss. Doing so, brings our relationship to another level in terms of discussion about their disease.

Craig Lammert, MD, is an assistant professor at Indiana University School of Medicine, a practicing hepatologist and researcher of autoimmune liver diseases. He’s also the founder and executive director of the Autoimmune Hepatitis Association, a nonprofit group that provides support (and hope) to people with autoimmune hepatitis and their families through education, research opportunities and fellowship.

Dr. Lammert discovered his passion for clinical research and liver disease as a student at Indiana University School of Medicine. After completing his residency at Emory University, Dr. Lammert joined the Mayo Clinic — where he did a fellowship in gastroenterology and hepatology and continued his research training, focusing mostly on primary biliary cholangitis (PBC).

Last updated on January 18th, 2024 at 09:50 am

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