Hereditary Hemorrhagic Telangiectasia (HHT) | Diagnosis & Treatment

How is hereditary hemorrhagic telangiectasia diagnosed?

Hereditary hemorrhagic telangiectasia (HHT) can be hard to diagnose, particularly in children, because its symptoms often develop in adolescence or adulthood and resemble those of several other conditions.

Diagnosis typically begins with a medical exam. The diagnosing clinician will want to know if a child has nosebleeds and if so, how often. They may also examine the child’s skin for telangiectasia.

A detailed family history will help determine if a parent or sibling has HHT, in which case, the child has a 50 percent chance of also having the condition. In some cases, the doctor may recommend genetic testing to detect whether the child has a gene mutation associated with HHT.

In general, HHT does not affect major organs until a child reaches adulthood. However, if a doctor suspects that an internal organ has been affected, they may order one or more of the following tests:

How is HHT treated?

If a child has HHT, the first step of medical care is to control nosebleeds and iron deficiency that can result from losing a large amount of blood.

Treatment may include:

  • electrocautery, a procedure that applies electricity to nasal tissues to stop them from bleeding
  • iron supplementation to reverse anemia