I have recently been diagnosed with HHT. I know that it is autodominate and that my two children each have a 50% chance of inhereting the condition. Can you go into more detail about the condition and are there any tests that can detect it?
Answer
Hereditary Hemorrhagic Telangiectasia (HHT), or Osler-Weber-Rendu Syndrome, is a disorder of the small and medium sized arteries of the body. HHT primarily affects 4 organ systems; the lungs, brain, nose and gastrointestinal (stomach, intestines or bowel) system. The affected arteries either have an abnormal structure causing increased thinness or an abnormal direct connection with veins (arteriovenous malformation) leading to bleeding in these organs.
Usually a person must have two of the following three symptoms in order for the diagnosis to be made.
• Recurrent nosebleeds (in up to 78% of individuals)
• Telangiectasias of the skin
• A parent or other family member has the diagnosis (usually in 80% of cases)
Establishing a diagnosis can be difficult as most telangiectasias do not appear until after age 21.
HHT is an inherited disorder. Specifically, it is autosomal dominant meaning that half of children born to a mother or father who are affected can have HHT. The other children will not be affected nor will they pass this gene to their children. HHT is common in persons of western European origin.
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