For appointments call 314.454.KIDS (5437) or 800.678.KIDS (5437)
Email Us
|
The HHT Team was featured in the Washington University School of Medicine Outlook Magazine. Read more... |
St. Louis Children’s Hospital is an Hereditary Hemorrhagic Telangiectasia (HHT) Center of Excellence that provides care to children in families with HHT.
HHT is an inherited disorder that affects blood vessels. It is characterized by abnormal connections between arteries and veins known as arteriovenous malformations (AVM’s) and telangiectases. AVM’s occur in the brain, spine, liver and lungs. Telangiectases are found in the mucocutaneous surface areas of the gastrointestinal tract, skin and nose.
Manifestations of HHT include:
- Recurrent epistaxis (nosebleeds)
- Telangiectases
- AVM’s in solid organs
The age of presenting symptoms is highly variable within families and within the HHT community. Children rarely have nosebleeds or skin findings, making them susceptible to being underdiagnosed. In our experience, children can have life-threatening manifestations of HHT, and therefore, need to be screened and evaluated at an HHT Center.
When children are referred to our center, a consultation and evaluation is customized to each child's needs. An initial screening appointment consists of a thorough history with a physical exam, SaO2 reading, contrast bubble echocardiogram and brain MRI with MRA (magnetic resonance angiography). The testing and the consultation can often be completed within 1-2 days. After the evaluation, patients and families will know whether or not they have symptoms consistent with possible or definite HHT. It is important that children are screened for HHT, so that if abnormalities are identified, treatments and therapies can be initiated to prevent events such as stroke, seizures, hypoxemia and severe anemia.
