September 8, 2020

9 in 10 People With This Rare Liver Disease Are Women 

woman holding drawing of sad liver

By Shivani Chinnappan, SWHR Programs Coordinator

This post is part of SWHR’s blog series to raise awareness about liver health issues that impact women. September 13 marks International Primary Biliary Cholangitis (PBC) Day. Read below to learn about the short and long-term effects of PBC on women.

PBC is a chronic and progressive autoimmune liver disease that overwhelmingly affects women. About 90% of PBC patients are women, and the disease is most prevalent in women ages 40-60. Sex is one of the main risk factors for the disease, in addition to age and genetics. However, researchers have yet to determine the exact reason behind this substantial sex difference.

Research has shown that, compared to the general population, people with close relatives who have PBC are at higher risk for the disease and that daughters of mothers with PBC are twice as likely to have the condition as sons. Autoimmune diseases like PBC are also much more common in women overall, which scientists hypothesize is related to their typically stronger immune responses than men.

In patients with PBC, the body’s immune system mistakenly targets healthy cells in the bile ducts of the liver, which can lead to cholestasis, or decreased bile flow. This can cause a buildup of bile acids in the liver leading to inflammation and scarring known as fibrosis. PBC left undiagnosed or untreated can lead to serious long-term liver issues, such as cirrhosis, in which severe scarring results in poor liver function.

PBC was previously known as primary biliary cirrhosis, but patient advocates led a campaign to change the name to more accurately reflect the disease and to remove stigma, as cirrhosis is often perceived as having been caused by alcohol use. PBC in particular is not caused by alcohol use. Patient advocates and experts selected the term cholangitis, meaning inflammation of the bile duct system, to better represent the disease as most patients are now diagnosed earlier and do not experience cirrhosis. Terminology in liver disease is important, as improper labels and stigma can lead many patients to face challenges in their path to treatment.

(Graphic from Intercept)

Symptoms of PBC are sometimes hard to detect, and more than half of patients are asymptomatic when diagnosed. Some common early symptoms include fatigue, dry mouth, and itchy skin. Later on, patients may develop more serious symptoms such as abdominal or joint pain, skin abnormalities like hyperpigmentation or yellowing, hypothyroidism, weight loss, and high cholesterol.

Health care providers can diagnose PBC using blood tests including cholesterol testing, liver enzyme testing, and testing for anti-mitochondrial antibodies (AMAs), which are found in the vast majority of people with PBC. Doctors may also conduct imaging tests, such as an ultrasound, or a liver biopsy to provide a more tailored treatment plan for a patient.

For some women, pregnancy may trigger the onset of PBC or worsen the pre-existing condition due to changes in women’s hormones and immune responses. For example, estrogen increases during pregnancy, and studies have shown that increased estrogen can suppress the uptake of bile acid. This interruption of liver function may worsen long-term liver issues such as PBC. The body also lowers its immune response during pregnancy to ensure that the genes of the partner are not rejected, and this fluctuation of the immune system during and after pregnancy may cause PBC flare-ups in patients.

There is currently no cure for PBC, but there are a number of treatment options to slow disease progression, as well as disease management techniques to help those living with PBC. Medications are available that may help move bile through the liver, reduce scarring and inflammation, and improve liver function. Doctors may also prescribe treatments to help with symptoms like itching and dry eyes and mouth. If medications do not work to control PBC and liver function begins to fail, patients may undergo a liver transplant.

Increasing awareness about PBC is important for encouraging patients to seek care sooner to increase the odds for earlier diagnosis. Resources such as this patient pamphlet and new apps for your phone that can help monitor symptoms can drastically change a patient’s quality of life. With support from the women’s health community, we can bring much-needed awareness to diseases like PBC that predominantly affect women so that patients can access the information and treatments they need to live a full life.

SWHR’s blog series on women’s liver health is supported by a grant from Intercept Pharmaceuticals Inc. SWHR maintains editorial control and independence over blog content.