This terrible itching leads to severe liver disease. What is PFIC?

The terrible, persistent itching accompanies them almost constantly. It disrupts sleep and the normal functioning of the whole family. The child is scratching his blood, screams in pain, and the parents are powerless. This is what life is like with PFIC – progressive familial intrahepatic cholestasis. Over time, the disease can lead to cirrhosis or cancer.

The devastation that PFIC causes in the body

The cause of such symptoms is improper absorption of fats, which additionally disrupts the normal development of the child. The result is low body weight, diarrhea, pancreatitis, and eventually cirrhosis and the risk of liver cancer. Such havoc in the body can be remedied by modern therapy, currently available only as part of a drug program.

In Poland, PFIC (progressive familial intrahepatic cholestasis) is diagnosed in five or seven patients a year. It is estimated that there are approx. 3,5 thousand people in Europe. children with this disease. PFIC develops when a child inherits the damaged gene variants from both parents. Patients do not live even to the age of 20 or 30 without serious medical interventions, including surgical operations involving, for example, external bile drainage. In some cases, a liver transplant is necessary.

The rest of the text is below the video.

Nightmare skin itching is the worst symptom of PFIC

Progressive familial intrahepatic cholestasis may occur in infants around six months of age. Disturbed fat absorption causes vitamin deficiencies and underweight, which makes them grow slower and develop worse. They suffer from diarrhea, pancreatitis, and even hearing impairment. The worst symptom in the assessment of patients and their families is intense itching, incomparable to any other.

This constant itching from head to toe is unbearable – children scratch their feet to the point of blood. One of the little patients describes it as the feeling of “a million ants under the skin 24/7”. Constant itching means that patients are unable to sleep, wake up many times during the night, are irritable, have trouble concentrating. They feel an irresistible urge to scratch themselves, often leading to serious skin injuries.

– Our so far healthy son, in the third month of life, began to scratch persistently. We began to wonder what could be the cause. Maybe a food allergy, maybe atopic dermatitis? Little by little, we were exhausting our options: changing milk, body preparations to relieve itching, but his skin was still terribly dry and hard, almost calloused, not like a baby’s skin. The itching was so annoying that Grześ practically did not sleep. We had no concept of a day: scratching, screaming, spilling blood all the time. Exhausted, he fell for two hours, but when he woke up, everything started anew – says Barbara, mother of three.

– My son got up and ran to the hall, where we had rough porcelain tiles – he lay down on them and scratched himself. Summer was a nightmare for us, we only went for walks in the evenings, when the temperature was dropping, we had to buy an air conditioner for the house, but it did not help much. Any attempt to disguise a child made him scratch himself so persistently whenever he had access to a bit of his naked flesh that he would hurt himself horribly. He was scratched all over. It was unbearable, she admits.

Living with PFIC. Trauma of the whole family

For parents, caring for children with familial intrahepatic cholestasis is not only a huge burden, but also contributes to a significant deterioration in the quality of life of the whole family.

– Everyday fear for a child, sudden deterioration of health, hospital visits, the risk of liver transplantation and the risk of life threatening give enormous stress, fatigue, often loneliness, and no prospects for improvement. Parents of children with PFIC experience confusion, even feelings of hopelessness, depression, and even thoughts of suicide – points out Sławomir Janus, President of the Association for Help for Sick Children “LIVER”.

This is admitted by Barbara, who spoke directly about depression and suicidal thoughts at a press conference devoted to this disease. – If it weren’t for my husband and mother-in-law, I wouldn’t be able to do it. More than once the doctors wanted to refer me to psychiatric treatment. We are now under the care of a psychologist – he adds.

All parents of children with PFIC have similar feelings.

– Our daughter fell ill shortly after she was born. Initially, the problem was poor test results (very high liver tests), the pruritus did not come until later. But over time it became unbearable. The baby stopped sleeping at night, woke up screaming every 15 minutes, we tried everything that could cool her a little: cool baths, air conditioning, skin emollients – nothing helped. She was scratched, blood was shedding, it was impossible to change her clothes, change the diaper, because then she started to scratch her tummy, intimate places and legs. We were desperate and very, very tired (we slept little). It had an impact on our whole family – says Bernadetta Kryształ, mother of a child from PFIC and a representative of the PFIC Network in Poland.

Sometimes the itch is like pain, but there is no way to deal with it

These descriptions are normal for all families who have a child with PFIC: sleep disturbance, treatment of damaged skin, putting on several layers of clothes every day to prevent the child from scratching blood, hats at any time of the year to avoid pulling hair out of the head – it’s ours « normality »- they say.

– But it is also an emotional struggle, an attempt to constantly console a child who screams for help, and we, as parents, cannot do anything. Our children suffer because this itching resembles pain in many cases, but while other types of pain can be treated with something, medicated, there has been no medication for this yet, adds Mrs. Bernadetta.

For those who have not experienced it, it is difficult to imagine how burdensome it is for parents to care for children with PFIC, and how burdensome it is for children and young adults with the problems that accompany the disease.

– In addition, the prospect of such aggravating diseases as cirrhosis and hepatocellular carcinoma at a young age undoubtedly takes away the sense of security and significantly reduces the quality of life of entire families – points out Iga Rawicka, president of the EuropaColon Polska Foundation, which deals with diseases of the digestive system, and such is ultra rare progressive familial intrahepatic cholestasis.

Amazing effects after the first dose of the drug

The quality of life of patients with PFIC has a chance to change dramatically, because on the list of drug technologies with a high level of innovation published by AOTMiT in February this year, a drug called odevixibate, which has the status of an orphan drug, appeared. This group of drugs is used in rare diseases. This one could help 40 patients a year in Poland.

A key goal in treating patients with PFIC is to reduce the intense and incurable pruritus. It is important to know that pruritus is one of the two indications for liver transplantation in children with PFIC. This novel therapy has the potential to delay or possibly prevent liver transplantation in this patient population. To the extent that bile acids contribute to progressive liver damage, lowering bile acid levels through novel therapeutic options may also result in improved liver function and delay in liver transplantation.

– We were offered to enter the program with an innovative drug, and believe me, the amazing effects were visible after the first dose of the drug. As soon as my son got up, he went to the hall as always, but instead of lying on the floor, he touched the tile and began to enjoy and clap – he didn’t have to scratch anymore. We couldn’t believe it! He was jumping with joy and we were crying with happiness. It was getting better every week and now we can also see that the child has started to develop, making up for the developmental delays caused by the disease. At the moment, our son is very cheerful and energetic. We are exhausted from the fact that he is a volcano of energy, but we are happy – says the mother of the three-year-old.

“We used other medications before, but they worked for the first few days, sometimes weeks, and the itching came back. By the time my daughter was two years old, there was a chance to join the innovative drug program, and when she started taking it, we started to see a difference after about a month and a half: all liver parameters returned to normal. But the most important thing for us and for her was that her suffering was over because the itching was over. The greatest happiness for us is that we can now watch him play with other children, laugh, be joyful. I cannot imagine that I could stop giving her this drug – says Mrs. Bernadetta.

Iga Rawicka hopes that the new financing opportunities under the Medical Fund will meet the unmet needs of these patients and entire families. – We are counting on positive final decisions of the Ministry of Health. May they take place as soon as possible – he explains.

zdrowie.pap.pl/ Monika Wysocka