Teen's Routine Symptom Hides Deadly Disease

A Rare Genetic Condition and the Struggles of a Teenage Patient

A teenager who experienced persistent itching has been diagnosed with a rare genetic condition that affects the liver and can be life-threatening. The individual, whose identity remains undisclosed, described the itching as starting on the palms of his hands and the soles of his feet, gradually worsening over two months.

Initially, the family thought it might be a minor issue that could be resolved with topical treatments. They consulted a family doctor, who did not consider it serious but suggested blood tests. However, the situation escalated quickly when the boy began experiencing severe abdominal pain while on his way to catch the bus to school. His mother rushed him to the emergency department for further evaluation.

After a series of medical tests, the boy was diagnosed with progressive familial intrahepatic cholestasis (PFIC), a rare genetic disorder that impairs the liver's ability to drain bile. Bile is a fluid essential for digestion, and when it builds up in the liver, it can lead to liver cirrhosis, scarring, and eventually organ failure. Symptoms such as itching can occur due to the irritation of nerve endings in the skin caused by high levels of bile.

PFIC typically presents early in life, but in some cases, symptoms may not appear until adolescence. Without treatment, most patients do not survive past their 30s. About six out of 10 patients receive a liver transplant, while others may be treated with medications that help reduce bile acid levels in the body.

The case was detailed in BMJ Case Reports, highlighting how symptoms of PFIC can occur at any age and how diagnosis may be delayed due to less severe symptoms. The boy, who was identified as a late adolescent, was otherwise healthy. Upon admission to the emergency room after collapsing on the school bus, doctors noted that he was shorter than expected for his age, had abdominal tenderness, and an enlarged liver.

Children with PFIC often experience growth issues due to impaired nutrient absorption caused by the condition. Before his hospitalization, the boy reported having dark-colored urine since birth and episodes of abdominal pain starting at age 10. He also mentioned being hospitalized for a gastrointestinal infection at that time.

Dark-colored urine can indicate high levels of bile, which is filtered out of the blood by the kidneys. Excess bile in the liver can cause damage, leading to abdominal pain and indigestion.

PFIC also increases the risk of gastrointestinal infections because the lack of bile can lead to bacterial overgrowth in the gut. Initial tests revealed elevated markers of liver damage and bile acids in his blood. Scans showed an enlarged liver, and further tests ruled out viral or autoimmune causes.

A genetic test confirmed that the boy had PFIC type 3, a form of the condition caused by a mutation in the MDR3 gene. This protein plays a crucial role in moving fats into bile to prevent bile acid buildup. There are three main types of PFIC, each linked to different genetic mutations.

Doctors started the boy on ursodeoxycholic acid (UDCA), a medication that alters bile composition to help drain it from the liver. After two months of treatment, his itching subsided, and bile acid levels in his blood decreased. After five months, liver enzyme levels also dropped.

It remained unclear whether he would require a liver transplant. In interviews published in the case report, the boy shared his experiences: "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."

He added, "Honestly, having this disease is not something that stops me from doing what I like, and I have to thank God for that." The boy received treatment at Hospital Professor Doutor Fernando Fonseca EPE, located outside Lisbon, Portugal.