As part of World Primary Biliary Cholangitis (PBC) Day, we spoke with the president of the Association for the Fight against Inflammatory Biliary Diseases Albi Spain, Elena Arcega.
Waking up every morning with a feeling of exhaustion that won't go away or feeling like the body is asking to scratch relentlessly, especially at night is the daily reality for many people suffering from primary biliary cholangitis (PBC). This is a rare autoimmune disease that mainly affects women in mid-life, and without proper treatment, can lead to other serious complications.
Among the voices that have decided not to remain silent in the face of this disease is Elena Arcega, president of the Association for the Fight against Inflammatory Biliary Diseases (Albi-Spain). This non-profit organization was founded on July 3, 2007 by a group of people affected by inflammatory biliary diseases, such as primary biliary cholangitis, primary sclerosing cholangitis and autoimmune hepatitis. Its mission is clear: to inform, support and connect those facing these diseases, as well as to promote dialogue between patients, medical personnel and researchers.
The disease, a challenge
Elena's story, like that of many other patients with this disease, began with symptoms that could easily have been ignored or attributed to other factors, such as stress or daily exhaustion. "I started experiencing intense itching, especially at night. I didn't think much of it at first; I attributed it to the fatigue of being a mother of three little ones," Elena recalls. "I used to tell my husband that I had a sleep allergy."
However, an unexpected episode of deep vein thrombosis prompted doctors to investigate further. "I didn't understand why my body was reacting that way," she says. Tests revealed something much more serious: primary biliary cholangitis, a disease that attacks the liver's small bile ducts, causing inflammation and, over time, scarring and eventually cirrhosis. This diagnosis changed his life forever.
The impact of this pathology goes beyond the liver. The first symptoms, although subtle, are devastating: extreme fatigue becomes a constant companion, leaving the affected person without energy for daily activities. Pruritus, or intense itching, steals hours of sleep and profoundly affects physical and mental health. These seemingly minor symptoms can be so debilitating that they completely transform a person's life and the lives of those around them. "It's a tiredness that never goes away."
Living with the disease
Receiving a diagnosis of PBC is a hard blow. "It's like suddenly having your batteries snatched away and never being the same," Elena shares, reflecting on the moment her disease was confirmed. The treatment of PBC is complex and requires a comprehensive approach that goes beyond blood tests and medical tests. "It is vital that doctors listen to their patients and understand the totality of their symptoms," she stresses.
The first treatment Elena received helped reduce her liver enzymes, but failed to completely stop the progression of the disease. Over the years, she tried different treatments, including some that were not specifically indicated for her condition, such as fibrates, which caused unwanted side effects.
"It's a complex disease, and we need a multidisciplinary approach to manage it properly."
And the fact is that this condition not only affects the liver; it is common for sufferers to also face other autoimmune diseases, as well as osteoporosis, which requires the intervention of multiple medical disciplines, such as rheumatology. "It is a complex disease, and we need a multidisciplinary approach to manage it properly," explains Elena, who has learned to live with the uncertainty and frustration that often accompany rare diseases.
The role of the Association
For those newly diagnosed with a rare disease, the road can seem lonely and overwhelming. This is where patient associations play a crucial role. Albi-Spain, under Elena's leadership, has become a beacon of hope for those seeking answers and support. The association not only focuses on raising awareness of the disease, but also offers reliable information, emotional support and comfort to patients and their families.
"Our main message to patients is not to seek information from unreliable sources. We want them to know that, in 70% of cases, medication manages to halt the progression of PBC, allowing a good or acceptable quality of life," Elena points out. The association also encourages participation in clinical trials, a subject that often generates doubts and fears. "We are not guinea pigs. These studies are safe and controlled processes that seek to discover more effective treatments and, ultimately, cures for diseases that today have no cure," she says with conviction.
In addition to Albi-Spain, there are other valuable resources for patients, such as ERN-Liver, Eurordis and the PBC Foundation, which provide information based on scientific evidence. The Spanish Federation of Rare Diseases (FEDER) also offers guaranteed support to patients and their families, helping them navigate the complex healthcare system and access necessary resources.
The struggle for hope
One of the biggest current challenges for PBC patients is the lack of therapeutic alternatives. In addition, fatigue, especially mental fatigue, remains one of the most difficult symptoms to manage and one of the most debilitating aspects of the disease.
However, despite the challenges, Elena does not lose hope. Her testimony is one of resilience and determination. "There is always hope," she says firmly. "Science advances, and even if it does so slowly, it doesn't stop advancing." This hope is what keeps the flame of her fight alive, not only for herself, but for all patients facing rare diseases.
In doing so, Elena also stresses the importance of continuing research, not only in PBC, but in all minority cholestatic diseases and other rare pathologies. "We need more research, more clinical trials, more treatment options. We cannot stop until we find a cure," she states with determination.
For those who have never heard of primary biliary cholangitis, it is important to understand that it has a profound impact on the lives of those who suffer from it. Living with a rare disease is a daily battle for quality of life, a constant struggle against fatigue, itchiness, and uncertainty about the future. But, as Elena's story demonstrates, it is not a struggle to be faced alone.
In a world where rare diseases often remain in the shadows, the voice of those who suffer from them is crucial to raise awareness and encourage research, in the hope that one day, PBC and other similar diseases will no longer be a silent threat, but a challenge overcome.
To conclude, we leave you the interview that the Association for the fight against inflammatory biliary diseases made to Dr. Albert Parés, Senior Consultant in Hepatology at Hospital Clínic de Barcelona, in which he explains in detail the three inflammatory biliary diseases.
