Most people have heard of liver problems like hepatitis and cirrhosis, but primary biliary cholangitis (or PBC) isn't nearly as well-known. PBC is a chronic liver disorder that results from damage to the bile ducts in your liver, which then causes a buildup of bile and reduces the organ's ability to function over time. This is typically a slow, gradual process; though, when left untreated, PBC can lead to cirrhosis (the scarring of the entire liver) and eventual organ failure.

Though it's unknown exactly what causes primary biliary cholangitis, research suggests that it may be linked to immune system problems like pernicious anemia and thyroid issues. Other possible risk factors include a history of urinary tract infections, a history of smoking, exposure to toxic chemicals, and a family history of the disease. In addition, PBC is most common in North America and Europe, among people ages 30 to 60.

Like other autoimmune disorders, this somewhat rare liver disease predominantly affects women. Some estimates have even suggested that 90 percent of PBC cases occur in women, usually middle-aged. Read on to find out more about the symptoms of PBC, available treatment options, and the challenges of living with this debilitating liver disease.

Symptoms of PBC

Unfortunately, more than half of PBC patients don't have any noticeable symptoms when they are diagnosed. Some common early symptoms include itchy skin, dry eyes and mouth, a decreased mental capacity, and profound fatigue; whereas later symptoms can include a host of ailments and noticeable physical changes. Some of these changes may include a swelling of the spleen, enlarged veins, swollen feet and ankles, jaundice (which is a yellowing of the eyes and skin), high cholesterol and fatty deposits under the skin caused by cholesterol, pain in the upper right abdomen, and osteoporosis, in addition to other physical symptoms.

As liver damage worsens, primary biliary cholangitis can cause gallstones and bile duct stones, severe liver scarring, increased pressure in the portal vein, vitamin deficiencies, and can also lead to increased risk of other diseases.

Available Treatment Options

There is no known cure for primary biliary cholangitis. But there are certain ways you can slow the disease's progress, help ease your symptoms, and ultimately feel better. Ursodeoxycholic acid (UDCA) is the only FDA-approved medication for first-line therapy for PBC. This medication helps bile move through your liver, and it's widely considered to be the safest and most effective treatment available. However, approximately 40% of patients don't respond to this treatment and 5% have negative side effects that force them to stop treatment.

In addition to prescribing UCDA, doctors will recommend that patients stop drinking alcohol altogether, as this puts undue stress on the liver. Regular exercise and low-sodium foods are also good ways to ease your symptoms.

For those who don't respond to UDCA or have to stop treatment, there is one FDA approved medication for second-line therapy of PBC. Unfortunately, 50% of patients don't respond to this treatment either and some experience a worsening of symptoms including itching.

There are several ongoing clinical trials for a variety of liver diseases including PBC. One investigational therapy drug called seladelpar is part of the ENHANCE study and is designed for patients who didn't have adequate results or couldn't tolerate UDCA treatment.

ENHANCE is the Phase 3 registration trial to evaluate the safety and efficacy of seladelpar for the treatment of PBC. The study began enrolling patients last year and is accepting applications through December.

Challenges of Living With PBC

Those living with primary biliary cholangitis understand that there are many challenges that come with this disease. In addition to the myriad of physical challenges, there are several mental challenges too. Because PBC is such a rare disorder, there are several misconceptions surrounding the disease. For example, many patients with PBC have noted that others often think they "drink too much," and that this is the cause of PBC. Of course, this is not the case, but it can be tough to constantly dispel this and other myths about the disease, in addition to living with the physical hardships that PBC brings with it. Just like any other disease, it can be lonely and tough for the person experiencing it.

The Bottom Line

Although the exact cause of PBC is unknown, one thing is for certain — if left untreated, PBC can lead to a plethora of physical and mental ailments. For those who have been diagnosed with PBC, in addition to seeking immediate medical care, it's important to enlist the support and assistance of friends and family members during this difficult time.

Editor's note: The views expressed in this article are not intended to replace professional medical advice, diagnosis, or treatment.