On the occasion of World Progressive Familial Intrahepatic Cholestasis Day, we interviewed Dr. Begoña Polo, from the Pediatric Gastroenterology and Hepatology Department at La Fe Hospital in Valencia, and an expert in this pathology, to explain first-hand what living with this disease involves and how it affects patients.
Begoña Polo Miquel is an attending physician in the pediatric digestive and hepatology service at Hospital La Fe, dealing with patients with Progressive Familial Intrahepatic Cholestasis, a rare and genetically manifested liver disease that affects infants from the first months of life. According to Orphanet data, the exact prevalence is unknown, but the incidence of this pathology varies between 1/50,000 and 1/100,000 births.
"It is a rare genetic disease that affects the liver progressively as its name indicates, and this brings with it some associated challenges, the main thing is that being a rare pathology (but not less important), there is a delay in the diagnosis and ignorance of it by society, so everything negatively affects patients and families.
Another challenge is to be able to identify all the existing types of this pathology, and the importance of research and genetic analysis, in fact, 12 different types have already been identified, with different prognosis but with a common result: hepatic deterioration, which in some types can be lethal. Some have an early risk of hepatocarcinoma, which in layman's terms is infantile hepatic cancer.
Symptoms usually appear between two and three months of age, which can make early diagnosis difficult; furthermore, this condition is not included in neonatal screening in any autonomous community.” This rapid onset of symptoms can confuse parents and doctors, as the initial signs often resemble those of other conditions. “It really is a disease with a variable phenotype, although it generally tends to be progressive and severe,” he adds.
“This constant itching not only affects children’s sleep and concentration, but also places a considerable emotional burden on their parents, who may feel frustrated and helpless when they see their little ones suffering.”
The doctor also emphasizes the significant impact this disease has—from its earliest manifestations—on the quality of life of children and their families, especially due to a very specific symptom that, coincidentally, is shared by various rare diseases. “Disablingitching is one of the most devastating symptoms,” she explains. This constant itching not only affects children’s sleep and concentration but also places a considerable emotional burden on their parents, who may feel frustrated and helpless watching their little ones suffer: “Parents come in saying that they see their children tossing and turning in their cribs, moving their legs a lot, touching their little ears, and that their eyes are red from crying or scratching.” This symptom is even worse in older children, who may develop scratch marks and related complications, such as bleeding or even require antibiotics due to infection. In fact, the doctor states that “the itching becomes so debilitating that it is the leading cause of transplant in these patients.”
Another of the most notable symptoms is jaundice, which causes the skin and eyes of children to turn yellow. In addition, Dr. Polo points out that “growth retardation is another key symptom, since this disease hinders the absorption of nutrients and vitamins—especially fat-soluble vitamins—which are essential for the growth and development of young children.” This can lead to additional complications, such as stunted growth and many related problems.
"This disease represents 15% of all pediatric liver transplants, which is a lot. Transplantation is not risk-free, we must keep in mind that it "saves your life", but many times, we allow one disease to be transformed by another. We carry an immunosuppression with the risk of many infections. Of course, graft survival is very high, but we must not forget the risks in these pediatric patients," confirms the doctor".
The diagnostic process for Progressive Familial Intrahepatic Cholestasis is complex and may require more than one medical test to confirm the diagnosis. “A liver biopsy can provide information about liver damage, but it is not sufficient to establish a definitive diagnosis,” the doctor explains. Early identification is crucial, as the progression of the disease without treatment can lead to serious complications, including cirrhosis and the need for a pediatric liver transplant. “It is essential to perform the appropriate biochemical tests, but genetic testing is necessary to confirm the diagnosis, and today we have access to mass sequencing techniques,” she adds.
The treatment must be multidisciplinary: nutritional, pharmacological and, at a certain moment, surgical.
Regarding the complications that the disease can cause, Begoña emphasizes that “progressive liver damage is a major concern for doctors, because we have to keep in mind that these are infants, and without proper treatment, some cases can rapidly progress to cirrhosis, which can be devastating—or even fatal.” However, the doctor also points out that there are treatment options, such as ileal bile acid reabsorption inhibitors, which are showing promising results in treating this disease.
Hope, the engine of patients.
That glimmer of hope is what the doctor says she conveys to the parents of her pediatric patients when their 7- or 8-month-old child is diagnosed with this condition. “Nutritional and psychological support are essential,” she emphasizes, “since children with cholestasis often require specialized care and constant monitoring.” Collaboration between the medical team (comprising various disciplines, depending on the specific type of cholestasis the patient is facing) and the parents is essential. “The bond between the parents and the doctor is essential for addressing all the challenges they face,” she says. This leads to improved detection and management of symptoms, as well as a more effective treatment approach.
“The relationship between parents and the doctor is essential for addressing all the problems they face”
However, he also stresses the importance of the psychological impact on the parents, since they are the ones who, despite not being patients, receive the 'initial shock' of the news. "The parents are affected emotionally. It is a very difficult situation. The child is the one who suffers, but they see him suffer and cannot help him, because they do not know very well what is happening to him and cannot communicate with him". On an economic level, like many rare pathologies, there is also an additional burden "It is a minority pathology, which is concentrated in only a few centers -which is as it should be- for the best management of these patients, and this involves many visits that can mean giving up work, traveling, spending vacations, asking for leave or reduced working hours..."
Associations: the patients' beacon
The doctor wants to emphasize a message of support for families who receive a diagnosis of this rare disease. “It’s important for them to know about the National Federation of Liver Patients and Liver Transplant Recipients, ”she says. This organization, officially formed in 2004 and comprising several smaller patient associations, offers strong support to families by providing all kinds of resources (legal and psychological counseling, etc.) and connecting them with other families facing similar situations, thereby creating an invaluable support network.
Through lectures, external tools, physicians and a lot of psychological support, it is very important for parents to understand that, although the disease can bring many challenges and complications, medicine today has effective treatments to manage symptoms that affect quality of life, such as itching. In addition, there are a variety of therapeutic offerings available that have proven to be effective.
The conversation with Dr. Begoña Polo about progressive familial intrahepatic cholestasis highlights even more the importance of early diagnosis, in this pediatric case, for access to correct treatment.