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 present between two and three months of age, which can make early diagnosis difficult, and it is not a pathology that is included in neonatal screening in any autonomous community". This rapid onset of symptoms can confuse parents and physicians, as the initial signs can often resemble other pathologies. "It really is a disease with a phenotype that is variable, although it tends to be progressive and severe," he adds.
"This constant itching not only affects children's sleep and concentration, but also creates a considerable emotional burden for their parents, who may feel frustration and helplessness as they watch their little ones suffer."
The doctor also emphasizes the significant impact that this disease has, from its earliest manifestations, on the quality of life of children and their families, especially with a very specific symptom that, coincidentally, is shared by several rare pathologies. "Disablingitching is one of the most devastating symptoms," he explains. This constant itching not only affects children's sleep and concentration, but also generates a considerable emotional burden for their parents, who may feel frustration and helplessness at seeing their little ones suffer: "Parents come in saying that seeing the children moving around in the crib, making lots of movements with their legs, touching their little ears and that they have red eyes, from crying or scratching". This symptom is even worse in older children, who can develop scratching lesions and related complications, such as bleeding or even needing antibiotics due to the infection. In fact, the doctor affirms that "itching becomes so disabling that it is the main cause of transplantation in these patients".
Another of the most notable symptoms is jaundice, which causes a yellowish color in the skin and eyes of children. 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 very necessary for the growth and development of children. This can lead to additional complications, such as insufficient 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. "A liver biopsy can provide information about liver damage, but it is not enough to establish a definitive diagnosis," clarifies the doctor. Early identification is crucial, as progression of the disease without treatment can lead to serious complications, including cirrhosis and the need for pediatric liver transplantation. "It is essential to perform the corresponding biochemical tests, but it is the genetic tests that are necessary to confirm the diagnosis, and today we have massive sequencing techniques," she adds.
The treatment must be multidisciplinary: nutritional, pharmacological and, at a certain moment, surgical.
Regarding these complications that the disease can generate, Begoña emphasizes that "progressive liver damage is a major concern for physicians, because we take into account that they are infants and without adequate treatment, some cases can rapidly evolve into cirrhosis, which can be devastating, or even lethal. However, the doctor also stresses that there are therapeutic options, such as ileal bile acid reuptake inhibitors, which are showing promising results in the treatment of this disease.
Hope, the engine of patients.
That halo 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 pathology. "Nutritional and psychological support is essential, she stresses, since children with cholestasis often need specialized care and constant follow-up. Collaboration between the medical team (made up of various disciplines, depending on the case of cholestasis the patient is facing) and the parents is essential. "The link between the parents and the physician is essential to address all the problems they face," he comments. This allows for improved detection and management of symptoms, as well as a more effective approach to treatment.
"The link between the parents and the physician is essential to address 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 diagnosed with this rare disease. "It is important for them to be aware of the existence of the National Federation of Liver Patients and Liver Transplant Patients," she says. This organization, officially formed in 2004, and which groups together other smaller patient associations, provides strong support to families, providing resources of all kinds (legal advice, psychological...) and connecting them with other families going through similar situations, thus 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.
