Hyper-Immunoglobulin E Syndrome, or HIES, is a rare primary immunodeficiency disease that causes a variety of symptoms. Those who suffer from this condition might have recurring lung infections, skin abscesses, high serum levels of IGE, and severe eczema.
HIES can make itself known in a newborn’s first month of life. This condition almost always causes a coarse texture to the sufferer’s facial skin, along with a wide array of skin conditions that can be difficult to treat. Newborns can also suffer from lung-related illnesses like pneumonia, and they might show signs of widespread inflammation in the body.
Sufferers of HIES have abnormally high levels of an immune system protein called immunoglobulin E (IgE). This causes a state of heightened immune response that is not warranted but which is present at all times. The body might overreact to actual threats to its health, like bacterial infections, or it might be so sensitised that it is not able to effectively fight off an illness.
Symptoms can range widely for those who suffer from this condition. Lung infections, bacterial skin infections, inflammatory skin conditions, skin abscesses, and widespread inflammation in the body can be present in varying degrees for these patients. Some people experience symptoms starting right after birth, while other people might not experience severe symptoms until they are children.
HIES can also affect the bones and teeth, leading to curvature of the spine, osteopenia, problems with retained baby teeth, and hyperextensibility in the joints. The arteries that supply the heart might be abnormal and structural changes to the bones of the face, or the composition of the brain might also be present.
This condition is caused by a mutation in the STAT3 gene. This gene is responsible for making the proteins that attach to DNA and help control gene expression. The immune system is impacted by this gene as well, causing numerous inflammatory symptoms related to this condition.
The risk factors for this condition are primarily genetic. Only one parent needs to carry the gene that causes the mutation for a child to be born having HIES. The genetic cause is not fully understood at this time, but inheritance is key to the expression of this gene. This gene mutation occurs in both men and women in equal numbers and seems not to be impacted by race.
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Immunodeficiency Disease Medications
Diagnosis of this condition is made through collecting a full health history of the patient or through examination of the infant since they cannot provide a health history. There is a HIES scoring system that is still used by some healthcare systems to evaluate the severity of the condition. Using this system, patients are evaluated for symptoms and scored from 0-60 on a severity scale based on the presence of certain symptoms.
Genetic testing can be done to look at the STAT3 gene expression, and parents can be tested for the markers that can contribute to the gene in children.
There is no way to prevent this condition. It is an inherited condition, and even if parents took the time to be tested for the gene mutation that could cause this condition, it is not always expressed in resulting children.
Treatment of HIES is largely responsive to the symptoms that are being experienced by a patient at any given time. Respiratory and lung infections, as well as skin infections, can be treated with antibiotics, while inflammation can be controlled with the use of NSAIDs. Topical skin care treatments can help manage severe eczema or rashes.
It is common for these patients to express that they do not feel sick, even when they have an active infection of some kind. This means that HIES patients need to be careful to pay attention to their symptoms so that they do not neglect infections that could become quite serious. All patients who suffer from this condition require vigilant care to be sure that they do not ignore infections and other conditions for weeks or months.