Hyper IgE Syndrome

Autosomal dominant hyper IgE Syndrome (AD-HIES) is also known as Autosomal Dominant Hyperimmunoglobulin E Syndrome is a very rare, genetic disease. It is characterised by abnormally high levels of a group of antibodies known as immunoglobulin E (IgE) in the blood. Normally, IgE helps the body to fight infections, especially parasitic worms. It also plays a key role in allergies (eg hayfever, atopic dermatitis and allergic asthma). People with this condition experience frequent bouts of pneumonia that can often result in the formation of air-filled cysts in the lungs. They also experience recurrent skin infections and eczema causing rashes, blisters, accumulation of pus (abcesses) and open sores. However, as this condition is very rare it often takes years before a correct diagnosis is made. Diagnosis is made by measuring the IgE levels in the blood combined with medical history after exclusion of cystic fibrosis and chronic granulomatous disease. 70% of patients with the disease have mutations in a gene known as STAT3 with the cause of the remaining 30% unknown. Affected individuals are also at an increased risk of autoimmune and lymphoproliferative (leukemia) diseases.

Signs & Symptoms

These are some of the signs and symptoms:

  • High levels of IgE in the blood
  • Eczema
  • Recurrent skin abscesses
  • Severe recurrent respiratory infections that may lead to chronic respiratory problems
  • Distinctive facial appearance - rough skin, facial asymmetry, prominent forehead, deep-set eyes, broad nasal bridge
  • Scoliosis
  • Dental - baby teeth do not fall out at the usual time
  • Reduced bone density
  • Eye complications

Who is affected?

It is estimated to affect one in 1,000,000 and affects males and females equally. In 2012, there were only four known cases in Australia.

Treatment

There is no known cure for this condition. The goal of treatment is to prevent and treat infections with long-term use of antibiotics and antifungal medication. Sometimes, surgery is needed to drain abscesses, especially in the lungs.

Hyper IgE syndrome is a lifelong chronic condition. Each new infection requires treatment. Mortality rate is high due to systemic infections, especially frequent bouts of pneumonia causing permanent damage to the lungs. However, with adequate care, close monitoring and patient compliance an affected individual can survive to 50 years of age or over.

Source: Orphanet

Disclaimer:
Information on this page is not intended to replace medical advice and any questions regarding a medical diagnosis or treatment should be directed to a medical practitioner.