Jakarta –
A man has had diarrhea for many years. He has experienced this condition for more than 30 years.
This 33-year-old man has had frequent diarrhea since he was two months old. He has been hospitalized at least eight times for the problem.
For more than 30 years, doctors struggled to find a trigger for the man’s illness before finally discovering that the patient actually had a rare mutation that caused his immune system to malfunction. This triggers him to experience severe diarrhea.
In a case report published in the New England Journal of Medicine, doctors said the man was diagnosed with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX). Test results showed that he had a mutation in his FOXP3 gene, which is responsible for regulating a type of white blood cell called a T-cell.
The condition caused her to develop an autoimmune disorder, when an overactive immune system begins attacking the body’s own tissues and organs, mistaking them for invaders.
This condition is very rare, affecting only about one in every 1.6 million people according to the Children’s Hospital of Philadelphia.
To fight diarrhea, the man was put on a very strict diet from the age of two, filtering out all dairy, soy, gluten, eggs, tree nuts, peanuts, fish and shellfish. He has also been on various medications to suppress his immune system, including prednisone which is commonly used to treat allergic reactions.
But as a result, he became 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.
Patients also suffer from rosacea, when the face and neck turn red, and occasionally experience bouts of eczema, another sign of an overactive immune system.
In early infancy, diarrhea started when he was only two months old and restricted his growth. The doctor gave him immune-suppressing drugs to stop the body from attacking itself and therefore to prevent diarrhea.
But when he was four years old, and when they tried to reduce the dosage, his diarrhea returned. He was tried on several different treatments until he was 13 years old, although the diarrhea kept recurring.
After that, her diarrhea became so severe that every two to four years she had to be hospitalized. Chronic diarrhea puts the patient at high risk of dehydration and malnutrition, because all the water, nutrients, and electrolytes are lost in the feces.
The condition also has a major impact on quality of life, leading to problems of shame, social isolation, and distress. Sufferers may always need to know where the nearest toilet is, for example.
Doctors decided to transfer the patient to Massachusetts General Hospital when the diarrhea recurred at the age of 33. Here, they started by performing an esophagogastroduodenoscopy (EGD) to examine his intestines, which showed gastritis and colon atrophy or decreased size and function.
(avk/juice)
2023-07-13 05:03:49
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