A man was left battling diarrhea for more than three decades because of a rare genetic condition.
The 33-year-old, who has not been named, had been plagued on-and-off loose stools since he was just two months old — and has been hospitalized at least eight times due to the problem.
Doctors had failed to diagnose the condition for decades – before finally found he had a rare mutation that caused his immune system to go haywire and attack his intestines, causing diarrhea.
He received a bone marrow transplant to treat the condition and is now no longer having to spend hours on the toilet every day.
The individual, who was not named, has faced on-and-off loose stools since he was just two months old — and has been hospitalized at least eight times (stock image)
In a case report published in the New England Journal of Medicine, doctors said they had diagnosed him with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.
Tests showed that 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 starts attacking the body’s own tissues and organs, mistaking them for invaders.
The condition is extremely rare, affecting about one in every 1.6million people according to the Children’s Hopsital of Philadelphia — or less than 200 individuals in the United States.
Doctors did not reveal the identity of the man, but said that he lived in a Mid-Atlantic State and worked in sales.
To combat the diarrhea, he had been on a highly restrictive diet since the age of two years, screening out all dairy, soy, gluten, eggs, tree nuts, peanuts, fish and shellfish.
He had also been on multiple medications to suppress his immune system, including prednisone which is commonly used to treat allergic reactions.
But as a result, he had been left more prone to illnesses such as pneumonia and infections of the upper respiratory tract.
When doctors in Boston first became aware of his case, they said he was a healthy weight but had high blood pressure.
The patient was also suffering from rosacea, when the face and neck turn red, and had occasional bouts of eczema — another sign of an overactive immune system.
In early infancy, the diarrhea began when he was just two months old and restricted his growth.
Doctors put him on immune-suppressing drugs to stop the body from attacking itself and therefore to prevent the diarrhea.
But when he was four years old, and as they tried to reduce the doses, the loose stools quickly returned.
He was trialed on several different treatments up to the age of 13 years, although the diarrhea kept recurring.
After this point, the diarrhea would become so severe that every two to four years he would be hospitalized.
Chronic diarrhea puts patients at high risk of dehydration and malnutrition, because of all the water, nutrients and electrolytes lost in their stool.
In serious cases, this can lead to them being hospitalized and even becomes life-threatening.
The condition also has a major impact on quality of life, leading to issues of embarrassment, social isolation and distress. Sufferers may always need to be aware of where the nearest toilet is, for example.
Doctors decided to transfer the patient to Massachusetts General Hospital when diarrhea recurred yet again at the age of 33 years.
Here, they began by carrying out an esophagogastroduodenoscopy (EGD) to check his intestines, 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 carried out genetic tests, which revealed the mutation.
The above shows a section of the man’s intestine as shown under a microscope. The arrows point to villous blunting — when finger-like projections that help absorb nutrients are reduced. This may be caused by immune system problems
Previously, it had been suggested that the patient had autoimmune enteropathy — a rare disorder where the immune system mistakenly targets the cells lining the intestine.
But after these tests, he was diagnosed with the rare condition IPEX syndrome — where genetic mutations lead the immune system not to function properly.
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 the body also has healthy immune cells that can stop runaway attacks.
Because the Covid pandemic had just begun at this 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 which was successful.
Eight months later, diarrhea has not returned.
