The autoimmune disease that affects women more and can begin with itchy feet

From one day to the next, Elida began experiencing intense itching in her hands and feet . She didn't know the reason, but it became "unbearable" because it wouldn't go away. When she first went to the doctor, she thought the birth control pills were to blame. "He told me it was impossible and ordered some tests to check her liver function," she recalls.

The results indicated an alteration , and that's when Elida made an appointment with a private digestive medicine clinic. "I started experiencing itching in March and was diagnosed in June. I was lucky," she confesses. She suffered from primary biliary cholangitis (PBC), a rare autoimmune disease that causes damage to the small intrahepatic bile ducts and leads to cholestasis, fibrosis, and possible cirrhosis.

"The person's immune system attacks part of the ducts that carry bile from the liver cells to the intestine, specifically the smallest caliber ducts , those inside the liver, which are microscopic and cannot be seen on an ultrasound, an MRI, or any other imaging test. It is very rare and complex ," Juan Turnes , head of the Digestive System Service at the Pontevedra University Hospital Complex, explains to El Confidencial.

Elida had been married for six months . At that point, since her blood values ​​were unstable, she was told it was best to wait until she became pregnant until she was able to see a favorable outcome. However, in July 2006 , she received unexpected news: she was expecting a baby . Her gynecologist then decided to discontinue her cholangitis treatment, and Elida's health worsened. "At first, no one referred me to a high-risk clinic, and I even had esophageal varices," she recalls.

It was a few months later that another professional told her she should resume treatment. Two weeks later , the medical team decided to schedule Elida's delivery due to her " high blood bilirubin levels ": "We ran the risk of it crossing the placenta, and that was already dangerous for the baby." But Elida went into labor earlier, at 34 weeks .

"I went through a pregnancy with such itching that I wanted to die , and I was always exhausted," Elida describes. "If they hadn't stopped you from treatment, you wouldn't be like this," the gynecologist told her. Despite attempts to stabilize her values, they weren't successful: "They had tried every possible combination , and they told me they didn't know what to do with me." To exhaust her last chance —a liver transplant—this Cordoban woman sought a second opinion on the other side of the country: Barcelona.

For several years, he visited Barcelona every three months, but they were unable to stop the disease , and in July 2013, he was put on the waiting list for a liver transplant. On October 9 of that same year, he entered the operating room to receive his new organ. In fact, he claims he practically entered the operation at code zero, an extreme emergency situation where the patient needs a transplant immediately to survive with a very short life expectancy without it. "They told my family that if that liver hadn't arrived , they didn't know how long I would have lived," he insists.

He's now 47 and feeling well, although he continues treatment for PBC. "I started with a healthy liver, and with the medications and immunosuppression necessary for the transplant, my blood tests have been perfect for the past two years. I only have very sporadic episodes of itching."

It affects women more

For his part, Dr. Turnes points out that, in reality, all autoimmune diseases affect women more, but in this case, the female-to-male ratio is nine to one, meaning that for every ten people affected, nine are women: "It's quite characteristic."

The specialist estimates that it may affect around 10,000 people in Spain, although he adds that the true prevalence is likely underestimated because it doesn't produce symptoms in its early stages. "An interesting characteristic at the European and global level is that, like some other autoimmune diseases, for example, Crohn's disease, there is also a north-south gradient. There is a higher prevalence in Norway, the United Kingdom, Sweden, and Denmark than in Portugal, Spain, or Italy. This difference, which was historically attributed not to genetic factors but to environmental factors, is gradually narrowing in a negative sense, but we still don't know the exact reason ," he adds.

The doctor explains that until the early 1990s, there was no therapy; in fact, the name of the disease at that time, and until 2014, was primary biliary cirrhosis: "With no treatment, it was a disease that, in most people, progressed to the point of causing cirrhosis , the only solution for which was a transplant; fortunately, that is no longer the case."

"This reduction in transplants occurred because in the early 1990s, research led by the Hospital Clínic in Barcelona discovered and validated an effective treatment called ursodeoxycholic acid , which consists of a variant of one of the components of the salts that make up bile . It has anti-inflammatory and immunomodulatory effects, reducing the impact of the disease and even completely neutralizing it in many people," he says.

He also emphasizes that between 20% and 40% of people "don't respond completely and need something else." "Even if they don't respond well, they have a better prognosis than people who don't take any treatment ," he clarifies.

Likewise, the expert assures that for those people who did not respond to treatment, until 2016 there was no second-line option and a new drug called obeticholic acid , marketed as Ocaliva, was approved by the European Medicines Agency (EMA) and the American Food and Drug Administration (FDA). "It emerged as a response to these people who did not respond to standard treatment . It allowed around 50% of these patients to be rescued, but at the cost of causing significant side effects in many of them, such as itching that could be very disabling . This was especially problematic, because itching and fatigue are already symptoms that people with this disease suffer," he explains.

In 2024 , both the FDA and EMA withdrew the drug's marketing authorization because long-term studies "failed to demonstrate a real-world prognostic benefit despite producing improvements in the analyses, in addition to causing side effects ."

However, the doctor explains that the IDARA Research Group , associated with the IIS Galicia Sur and the Digestive Service of the Pontevedra University Hospital Complex, has been offering patients the opportunity to participate in various clinical trials for the past five years in order to find treatments that would alleviate the need for drug withdrawal. "One of these trials involved the drug Elafibranor , which has just received funding approval from the Ministry of Health and which manages to rescue approximately half of the people who do not respond to first-line treatment. It has interesting beneficial effects because it reduces inflammation, itching, and fatigue, which are two very characteristic symptoms . In addition, it reduces chronic damage, scarring, and fibrosis," he confirms.

Turnes clarifies that, "unfortunately," there is no curative option : "We are facing a complex pathology , in which achieving a complete cure represents a significant challenge. For me, a complete cure is one in which we administer a treatment, as occurs in hepatitis C, we eliminate the virus, we suspend the therapy, and the disease does not reappear ."

"It's extremely difficult to deactivate it through a short-term treatment. Even so, I trust in the continued advancement of medicine and don't rule out that, within 10 to 20 years , we can achieve that goal," he concludes.