Question 1

What is Hyper IgE Syndrome?

Accepted Answer

Hyper IgE Syndrome (HIES) is a rare primary immunodeficiency disorder characterized by extremely elevated immunoglobulin E levels, recurrent skin abscesses, and severe lung infections. It is caused by genetic mutations that disrupt immune system regulation, most commonly in the STAT3 gene. The IgE blood test is the most important test for diagnosis, as HIES patients typically have levels exceeding 2,000 IU/mL, which is 10-50 times higher than normal.

Question 2

What causes Hyper IgE Syndrome?

Accepted Answer

Hyper IgE Syndrome is caused by genetic mutations that affect how your immune system works, most commonly mutations in the STAT3 gene for autosomal dominant HIES or DOCK8 gene for autosomal recessive HIES. These genetic defects disrupt the normal communication between immune cells, leading to an overproduction of immunoglobulin E antibodies and weakened defenses against certain bacteria and fungi. The condition is usually inherited from parents or occurs as a new spontaneous mutation, and it affects multiple body systems including the skin, lungs, bones, and teeth.

Question 3

What is the best test for Hyper IgE Syndrome?

Accepted Answer

The IgE blood test is the most important test for Hyper IgE Syndrome because it measures the total immunoglobulin E levels in your blood, which are dramatically elevated in this condition, typically exceeding 2,000 IU/mL compared to normal levels below 100 IU/mL. This test is essential for diagnosis when you have the characteristic symptoms of recurrent skin abscesses and severe pneumonia. While the IgE test is the primary diagnostic tool, your doctor may also order additional tests including a complete blood count to check eosinophil levels, genetic testing to identify specific mutations in STAT3 or DOCK8 genes, and immune function studies to evaluate how your white blood cells respond to infections.

Question 4

When should I get tested for Hyper IgE Syndrome?

Accepted Answer

You should get tested if you experience recurrent skin abscesses or boils that keep coming back despite treatment, frequent pneumonia or lung infections that develop into cysts or cavities, severe eczema that started in infancy and does not respond well to typical treatments, repeated sinus or ear infections, or bone fractures from minor injuries. Testing is especially important if you have a family history of similar immune problems or if you notice these symptoms starting in childhood. Early diagnosis helps prevent serious complications like permanent lung damage and allows for better management of infections before they become life-threatening.

Question 5

What are the symptoms of Hyper IgE Syndrome?

Accepted Answer

The hallmark symptoms of Hyper IgE Syndrome include recurrent skin abscesses filled with pus, severe eczema that typically starts in infancy, and repeated lung infections that can form pneumatoceles or air-filled cysts. You might also experience chronic sinus infections, ear infections, frequent yeast infections like oral thrush or skin candidiasis, and dental problems including baby teeth that do not fall out naturally. Other signs include distinctive facial features that develop over time such as a broad nose and prominent forehead, bone abnormalities including bones that fracture easily, joint hyperextensibility, and scoliosis or curvature of the spine.

Question 6

Who is at risk for Hyper IgE Syndrome?

Accepted Answer

Hyper IgE Syndrome primarily affects people who inherit genetic mutations from their parents or develop new spontaneous mutations, with symptoms usually appearing in infancy or early childhood. The autosomal dominant form caused by STAT3 mutations affects males and females equally and can be passed down from one affected parent, while the autosomal recessive form caused by DOCK8 mutations requires inheriting defective genes from both parents. Because this is a genetic condition rather than something you catch or develop from lifestyle factors, family history is the main risk factor, and siblings of affected individuals have an increased risk depending on the inheritance pattern in their family.

Question 7

What happens if Hyper IgE Syndrome is left untreated?

Accepted Answer

Untreated Hyper IgE Syndrome leads to progressive lung damage from repeated infections, resulting in permanent scarring, bronchiectasis, and the formation of large air-filled cysts called pneumatoceles that can rupture and cause life-threatening collapsed lungs. The recurring skin infections can cause severe scarring, chronic wounds, and potentially life-threatening bloodstream infections or sepsis. Over time, untreated patients develop skeletal abnormalities including severe scoliosis, osteoporosis with pathological fractures from minimal trauma, and joint problems that significantly impact mobility and quality of life. The chronic infections and immune dysfunction also increase the risk of developing lymphomas and other cancers, making early diagnosis and consistent management essential for preventing these serious complications.

Question 8

Can Hyper IgE Syndrome be diagnosed with a blood test?

Accepted Answer

Yes, Hyper IgE Syndrome can be diagnosed with a blood test that measures your immunoglobulin E levels, with extremely high IgE levels above 2,000 IU/mL being a key diagnostic marker for this condition. The blood test also typically reveals elevated eosinophils, which are white blood cells involved in allergic responses and fighting parasites. However, a complete diagnosis requires combining the blood test results with your clinical symptoms such as recurrent infections and skin problems, your medical history, and often genetic testing to identify the specific mutation causing the syndrome, as elevated IgE alone can occur in other conditions like severe allergies or parasitic infections.

Question 9

How is Hyper IgE Syndrome treated?

Accepted Answer

Hyper IgE Syndrome is treated with a comprehensive approach focused on preventing and aggressively treating infections, including daily preventive antibiotics to reduce skin and respiratory infections, antifungal medications to prevent yeast infections, and prompt treatment with antibiotics when infections occur. Many patients benefit from regular intravenous immunoglobulin infusions to boost immune function, aggressive skin care with moisturizers and medicated creams to manage eczema, and regular monitoring with chest imaging to catch lung problems early. Treatment also includes addressing complications such as surgical drainage of abscesses, physical therapy for bone and joint issues, dental care for retained teeth, and in severe cases, bone marrow transplantation may be considered especially for the DOCK8 form of the disease.

Question 10

How can I prevent Hyper IgE Syndrome?

Accepted Answer

Because Hyper IgE Syndrome is a genetic condition caused by inherited or spontaneous mutations, you cannot prevent the syndrome itself from developing. However, if you have HIES or a family history of the condition, you can prevent serious complications by maintaining excellent skin hygiene to reduce infections, avoiding activities that could cause skin breaks or injuries, staying up to date with vaccinations except live vaccines, practicing good respiratory hygiene and avoiding people with contagious illnesses, and seeking genetic counseling before having children to understand the inheritance risks. For individuals already diagnosed with HIES, early and consistent medical management including preventive antibiotics and regular monitoring is essential for preventing the severe infections and complications that characterize this condition.

Question 11

What can I do at home for Hyper IgE Syndrome?

Accepted Answer

At home, you can support your health with Hyper IgE Syndrome by maintaining meticulous skin care including daily moisturizing with thick emollients to prevent eczema flares, using diluted bleach baths twice weekly to reduce skin bacteria, and treating any cuts or scrapes immediately with antiseptic. Practice good hygiene by showering daily with antibacterial soap, keeping your environment clean to minimize exposure to mold and bacteria, and using a humidifier to prevent dry skin and respiratory passages. Support your immune system by eating a nutrient-rich diet with plenty of protein for wound healing, staying well-hydrated, getting adequate sleep, managing stress through relaxation techniques, and keeping a health diary to track infections and symptoms so you can identify triggers and communicate effectively with your healthcare team about patterns in your condition.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

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Question 14

When will my lab results be available?

Accepted Answer

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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

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Question 18

How can I find a lab location near me?

Accepted Answer

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Hyper IgE Syndrome Blood Test

What is Hyper IgE Syndrome?

What causes Hyper IgE Syndrome?

What is the best test for Hyper IgE Syndrome?

When should I get tested for Hyper IgE Syndrome?

References

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