If your infant son develops a rash or diarrhea, you probably wouldn't suspect IPEX syndrome. Less than 300 people in the United States have this rare genetic disease, but for those who do, it can be debilitating and life-threatening.
What is IPEX syndrome? This acronym stands for “immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome”. Learn about this confusing condition that begins before a baby is six months old and discover which treatment options are available.
What Are Common IPEX Syndrome Symptoms?
It can be difficult to pinpoint a hallmark trait of IPEX syndrome simply because there are so many signs and symptoms that accompany this genetic disorder — and many of them don’t seem related. Fortunately, when the following symptoms appear together or around the same time in a child's life, it can help doctors know when to consider genetic testing.
Eczema and other skin issues.Eczema, or atopic dermatitis, is very common in babies and can persist throughout the teenage years and into adulthood. It causes itchy, dry patches that often become red and inflamed as they get worse. By itself, eczema is annoying but not life-threatening.
Thyroid problems. Children with IPEX syndrome often develop an autoimmune thyroid disease where the immune system attacks the thyroid. Over time, this attack will destroy the thyroid’s ability to function normally, and the child will show signs of hypothyroidism (diminished thyroid function) or hyperthyroidism (overactive thyroid function).
Diabetes. Children with IPEX syndrome are often diagnosed with type 1 diabetes, which is an autoimmune condition where the pancreas doesn’t make enough insulin to regulate glucose correctly. Diabetes in IPEX syndrome is typically managed with insulin injections, dietary modifications, and close monitoring. Having both autoimmune thyroid disease and type 1 diabetes is sometimes referred to as "polyendocrinopathy".
Autoimmune enteropathy. This of the most troublesome symptoms of IPEX syndrome, and also one of the most reliable signs for diagnosis: Almost everyone with IPEX syndrome experiences enteropathy, which occurs when the immune system destroys cells in the person’s intestines. When the intestines don’t work correctly, food isn’t absorbed. A child with IPEX syndrome might fail to gain weight or even lose a lot of weight in the first few months of life.
Diarrhea. Diarrhea can be a symptom of many childhood illnesses, but if it accompanies skin rashes, diabetes symptoms, or other odd symptoms, it could point to IPEX syndrome or a similar condition where the intestines aren’t processing food the way they should. If your child has persistent diarrhea that doesn’t seem to get better even when you change their diet, be sure to ask your doctor for advice.
How Is IPEX Syndrome Diagnosed?
Because IPEX syndrome can affect the body in so many different ways, it can be difficult to diagnose. Other symptoms that might appear are autoimmune hepatitis, arthritis, and lung disease. Doctors often look for a few symptoms that pop up in nearly all of the documented cases of IPEX syndrome.
Diarrhea caused by enteropathy, endocrine abnormalities that manifest as type 1 diabetes and autoimmune thyroid disease, and dermatitis that resembles eczema or psoriasis are sometimes referred to as the “clinical triad” of symptoms that point to IPEX syndrome. This means that these symptoms are observable in a clinical setting — either when the patient is examined physically or through blood testing — and that they are severe enough to suggest that a child should have genetic testing for IPEX syndrome.
Who Is Affected by IPEX Syndrome?
A gene called the FOXP3 gene has abnormalities that lead to the development of IPEX syndrome symptoms, specifically in males. This syndrome might be suspected when doctors examine the patient and compare symptoms to the clinical description of IPEX syndrome, but IPEX syndrome can only be diagnosed with certainty via genetic testing.
Girls can develop similar genetic diseases that cause endocrine issues, diarrhea, and skin problems, but they aren’t IPEX syndrome. If your baby daughter is dealing with similar symptoms and you’re struggling to get answers, it might be helpful to look at related conditions that involve multiple autoimmune issues.
How Is IPEX Syndrome Different Than Other Autoimmune Diseases?
Many autoimmune disorders like rheumatoid arthritis, lupus, psoriasis, and autoimmune thyroid disease run in families. While genes do play into how many diseases, including autoimmune conditions, develop, these more common diseases aren’t the result of a mutation of a single gene.
Instead, it takes many genes combined with a patient’s lifestyle and environment to trigger an autoimmune condition. For example, a patient with a genetic predisposition to rheumatoid arthritis might only develop the disease when they are exposed to a stressful environment or experience a major physical change.
How Is IPEX Syndrome Treated?
When IPEX patients are first referred to specialists for treatment, their symptoms will be evaluated, and a team of doctors will determine which of the problems to address first. Affected kids might have diabetes, eczema, and many other internal symptoms that require quick attention so that their condition does not worsen.
Next, IPEX syndrome patients are given treatments like chemotherapy to manage symptoms caused by autoimmune inflammation. Reducing this type of immune system activity is necessary before they can undergo any type of stem cell transplant.
Unfortunately, many patients with IPEX syndrome die if they do not receive treatment in time.
Because IPEX syndrome involves multiple body systems and is so rare, it can be isolating and frustrating to learn that you or your child has this diagnosis. Reach out to your doctor for referrals to specialists and get in touch with a support group for emotional help.