My constant itching turned out to be a potentially deadly disease
A teenager who suffered from a constant itch has been diagnosed with a rare genetic condition that kills half of patients before their 10th birthday.
The individual, who was not identified, said the itching was on the palms of his hands and soles of his feet, and became progressively worse over two months.
'At the beginning, we thought it was something that would go away fast and that could be treated with cream,' he told doctors in a case report revealing his condition.
'We consulted with the family doctor, and she said she didn't think it was something serious but asked for blood tests.'
He added: '[But] a few days later... on my way to catch the bus to school, I started feeling unbearable abdominal pain, and my mom brought me to the emergency department.'
After a battery of tests, the boy, who was from Portugal, was diagnosed with progressive familial intrahepatic cholestasis (PFIC), a rare genetic condition that leaves the liver struggling to drain bile, a fluid made by the organ that is used in digestion. About one in 50,000 to one in 100,000 people have the condition, estimates suggest.
With the condition, sufferers have bile that gradually builds up in the organ, causing liver cirrhosis, scarring of the organ, and eventually organ failure.
As the bile builds up, it can also leak into the bloodstream and trigger symptoms such as itching because the higher levels irritate nerve endings in the skin, including in the hands and feet.
The boy suffered from the symptoms of itching for two months before his diagnosis (stock image)
Warning signs of PFIC normally appear early in life, but in some cases, they may not become apparent until someone is an adolescent. Few patients survive into their 30s without treatment. The majority of patients are diagnosed before their 10th birthday.
About six in 10 patients are treated with a liver transplant, but some may also be offered medications that can reduce the level of bile acid in the body, helping to manage the condition.
The case was revealed in BMJ Case Reports, with doctors warning that it showed symptoms of the disease could happen at 'any age' and that diagnosis may be delayed due to a 'lack of severe symptoms'.
The boy was described as a late adolescent, typically classified as between 18 to 21 years old, and being otherwise healthy.
Upon admission to the ER after collapsing on the school bus, however, doctors noted that he was also short for his age, had tenderness in his abdomen and an enlarged liver.
Children with PFIC do tend to be short for their age due to the impaired bile flow caused by the condition, which leaves them struggling to extract nutrients, and liver disease associated with the disorder.
Before his admission, the boy told doctors that he had been suffering from episodes of dark-colored urine since birth and, beginning at the age of 10, he also suffered from sporadic abdominal pain lasting up to two hours at a time that frequently triggered indigestion.
The boy also said that when he was 10 years old, he was hospitalized for a gastrointestinal infection.
Urine can take on a darker color if it contains high levels of bile, with the bile filtered out of the blood and into the urine by the kidneys.
Too much bile in the liver can then lead to damage can cause abdominal pain and indigestion.
He had itching in the palms of his hands and the soles of his feet, doctors said (stock image)
PFIC also raises the risk of an infection in the gastrointestinal system because the lack of bile can lead to bacterial overgrowth in the guts, potentially causing an infection.
Doctors initially ordered tests, which revealed elevated levels of markers of liver damage and bile acids in his blood. They also ordered scans, which showed that his liver was enlarged.
Further swabs showed that he did not have a viral infection or autoimmune disease.
After a genetic test, he was diagnosed with PFIC type 3, a version of the condition that causes the MDR3 protein to be misshapen.
This protein is crucial for moving fats into bile to stop bile acid from building up.
There are three main types of PFIC, researchers say, with the others caused by mutations in separate genes that also lead to a build-up of bile acids in the liver.
PFIC type 3 is behind about a third of cases.
Doctors started the boy on treatment with ursodeoxycholic acid (UDCA), a prescription medication that alters the composition of bile to help drain the substance from the liver, allowing the liver to regenerate and repair damage.
After two months on the drug, the boy's symptoms of itching in the palms and soles subsided and bile acid levels in the blood dropped. After five months, the level of liver enzymes in his blood also dropped.
It was not clear whether he would also be referred for a liver transplant.
In quotes published in the case report, he told doctors: 'By the time of the diagnosis, I had to quit [soccer], which was something very hard for me.
'I don't feel special having this disease. It could have happened to anyone, and, for luck or bad luck, it happened to me.
'I continue living my life as I did before discovering the illness, but with some precautions, such as not drinking alcohol.'
He added: 'Honestly, [though, overall,] having this disease is not something that stops me from doing what I like, and I have to thank God for that.'
He was treated by doctors at Hospital Professor Doutor Fernando Fonseca EPE, located outside Lisbon, Portugal.
