Advances Against a Silent Problem

Although there are effective treatments and new therapeutic options have emerged, underdiagnosis remains one of the major challenges posed by primary biliary cholangitis (PBC), an autoimmune liver disease, which mainly affects women who, for years, may not know they have it. "Primary biliary cholangitis is an inflammatory, chronic, and progressive liver disease of autoimmune origin," explains Dr. Marta Casado, president of the Spanish Foundation for the Digestive System (FEAD) and hepatologist at Torrecárdenas University Hospital, Almería. Its estimated prevalence is between 15 and 20 people per 100,000 inhabitants in Caucasian populations, and it mainly affects women over 40 years old.

The problem is that many of them do not know it. “We are convinced that this is an underdiagnosed disease. In its early stages, it does not show symptoms, and diagnosis usually occurs due to abnormalities in blood tests that appear incidentally,” adds the hepatologist.

That was precisely what saved Elida, a patient diagnosed with PBC in 2014 after a quick referral from her gynecologist. “I was lucky. I started with very intense itching in the palms of my hands and the soles of my feet. I went to the gynecologist thinking it could be due to the pill, and he sent me to get liver tests. I happened to see a Digestive doctor who suspected it and they did a biopsy,” she recounts. Elida's story is an exception. “I know cases of people who have been from consultation to consultation for years without a clear diagnosis.”

Although itching and fatigue are the most frequent symptoms, they are so nonspecific that they are often not related to liver disease. “Many patients spend years with itching or extreme tiredness without knowing what is happening to them. Sometimes, not even the doctors associate it with PBC,” warns Casado. And when it is diagnosed, the disease may have already progressed too far.

“I would come home from work, eat, and I was no longer a person,” recalls Elida. “I couldn’t even prepare a snack for my son. The itching wouldn't let me sleep and the fatigue was so brutal that I had no social life. I would go out with friends and within half an hour I wanted to leave. I couldn’t take it anymore.”

The first-line treatment for PBC is ursodeoxycholic acid (UDCA). However, up to 45% of patients do not respond adequately, leaving a significant gap without effective therapeutic coverage. In recent months, new options such as elafibranor, developed by Ipsen, have appeared for use in combination with UDCA or as monotherapy.

“We have high hopes for these new options. They are well tolerated, do not cause significant side effects, and could help not only to halt the progression of the disease but also to alleviate symptoms like itching or fatigue,” points out Dr. Casado.

Elida did not arrive in time to benefit from these advances. “When I was transplanted, they were finishing the studies of a new drug. It began to be distributed about a year later. I always think that if I had had it earlier, maybe the transplant wouldn’t have been necessary.” She underwent a liver transplant in October 2013, after a rapid and severe deterioration of her health. “The transplant gave me a new life, but it's not a perfect solution. There are those who don't make it in time, those who don't survive the surgery, or those who then have serious complications. I was lucky.”

Today she combines immunosuppressive medication with specific treatment for PBC. She still experiences sporadic symptoms, such as extreme dry skin or fatigue during certain times of the year. “The hardest part is the uncertainty. Knowing that the disease can return at any time.” In addition to the need for continued research, from the Association of Patients with Primary Biliary Cholangitis (ALBI Spain), of which Elida is a member, they demand more agility in approving new treatments and greater sensitivity in evaluating the degree of disability. “They gave me a 1% when I couldn’t even hold a plate or write due to the tremors caused by the medication,” she complains.

Clinicians advocate for improving training in Primary Care and establishing alert tools. “The disease is diagnosed with a blood test. If certain altered markers trigger an alert, we could diagnose many more patients,” suggests Dr. Casado.

The emotional and psychological impact is another less visible dimension. “They often also need emotional support. That's why we value the role of associations so highly, which provide support and guidance from the very beginning,” acknowledges Dr. Casado. For her part, Elida states that she decided her “bad experience had to serve a purpose.” “If sharing my story helps others, then it’s welcome,” she concludes.