A man has been battling diarrhea for more than three decades due to a rare genetic condition.
The 33-year-old, who has not been named, has had on and off loose stools since he was two months old – and has been hospitalized at least eight times because of the problem.
Doctors had been unable to diagnose the condition for decades — before he finally discovered he had a rare mutation that caused his immune system to go haywire and attack his gut, causing diarrhea.
He received a bone marrow transplant to treat the condition and now no longer has to spend hours on the toilet every day.
The person, who has not been named, has had intermittent loose stools since he was two months old – and has been hospitalized at least eight times (stock image)
In a case report published in the New England Journal of Medicinedoctors said they diagnosed him with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.
Tests showed he had a mutation on his FOXP3 gene, which is responsible for regulating a type of white blood cell called T cells.
This caused the syndrome, which is when an overactive immune system begins to attack the body’s own tissues and organs, mistaking them for invaders.
The condition is extremely rare, affecting about one in 1.6 million people, according to the Children’s Hospital of Philadelphia – or less than 200 persons in the United States.
Doctors did not reveal the man’s identity, but said he lived in a Mid-Atlantic state and worked in sales.
To combat the diarrhea, he had been on a very restrictive diet since age two, excluding all dairy products, soy, gluten, eggs, tree nuts, peanuts, fish and shellfish.
He had also taken multiple medications to suppress his immune system, including prednisone, which is commonly used to treat allergic reactions.
But as a result, he had become more susceptible to illnesses such as pneumonia and upper respiratory infections.
When doctors in Boston first learned of his case, they said he was a healthy weight but had high blood pressure.
The patient also suffered from rosacea, in which the face and neck turn red, and had occasional bouts of eczema – another sign of an overactive immune system.
In early childhood, the diarrhea started when he was just two months old and limited his growth.
Doctors placed him on immune-suppressing drugs to prevent the body from attacking itself and thus prevent diarrhea.
But when he was four years old, and when they tried to reduce the doses, the loose stools quickly returned.
He was tried with different treatments until he was 13 years old, although the diarrhea kept coming back.
After this point, the diarrhea would become so severe that he would be hospitalized every two to four years.
Chronic diarrhea puts patients at high risk for dehydration and malnutrition, because of all the water, nutrients and electrolytes lost in their stool.
In severe cases, this can lead to them being hospitalized and even become life-threatening.
The condition also greatly impacts quality of life, leading to issues of shyness, social isolation and distress. For example, patients should always know where the nearest toilet is.
Doctors decided to transfer the patient to Massachusetts General Hospital when the diarrhea returned again at age 33.
This is where they started performing an esophagogastroduodenoscopy (EGD) to check his bowels, which revealed gastritis and atrophy of the colon – or a decrease in its size and function.
Blood tests revealed elevated levels of antibodies and white blood cells. Doctors also performed genetic testing, which revealed the mutation.
The above shows part of the man’s gut as viewed under a microscope. The arrows point to villous blunting – when finger-like protrusions that help absorb nutrients are reduced. This can be caused by immune system problems
It was previously suggested that the patient had autoimmune enteropathy – a rare condition in which the immune system mistakenly targets the cells lining the gut.
But after these tests, he was diagnosed with the rare condition IPEX syndrome – in which genetic mutations cause the immune system to malfunction.
To treat the condition, doctors suggested a bone marrow transplant from a healthy patient.
The bone marrow is where many white blood cells are made and implanting tissue from a healthy patient would ensure that the body also has healthy immune cells that can stop runaway seizures.
Since the Covid pandemic had just started at the time, they initially struggled to find a donor.
Doctors first used his brother, who was healthy, but three months after this transplant, the diarrhea returned and tests showed his body had rejected the tissue.
The patient was then lined up for a second transplant with a matched but unrelated donor that was successful.
Eight months later, the diarrhea has not returned.