Joshua M. Griffis said:
From what I understand, there are two main stages to HHT testing.
The fist is "clinical diagnosis" . . . (taken from the HHT Foundation's website).
CLINICAL DIAGNOSTIC CRITERIA FOR HHT
1. NOSEBLEEDS, spontaneous and recurrent.
2. TELANGIECTASES, multiple, at characteristic sites including lips, oral cavity, fingers and nose.
3. INTERNAL LESIONS such as: Gastrointestinal telangiectasia (with or without bleeding), Pulmonary AVM, Hepatic AVM, Cerebral AVM, Spinal AVM
4. FAMILY HISTORY- a first degree relative with HHT according to these criteria.
The HHT Diagnosis is:
- Definite if 3 criteria are present
- Possible or suspected if 2 criteria are present
- Unlikely if fewer than 2 criteria are present.
Now you need to keep in mind that most HHT patients are asymptomatic until the 4th of 5th decade of life, and that there is always someone who is the first person to get the diagnosis in a given family. So . . . if you are not sure after this, you can go onto the second part -- Genetic Testing.
A bit too much to go into here . . . so I will just give you the basics (if you want more info, let me know).
Through a blood sample, there will be extensive testing of the endoglin and ALK-1 genes - this testing must occur at one of 5 genetic testing labs in North America (or your respective continent). After mutation has been discovered in one person, it is faily easy and inexpensive to test other family members.
I hope this helps . . . ;)
Sue Roth said:This is very interesting Joshua. How does one get tested for it? I am thinking it would be a good idea for my daughters get checked out, just to be safe.to
Joshua M. Griffis said:Hey guys . . .
AVMs are not, in and of themselves, hereditary; however, nearly 70% of people with AVMs in the brain (CAVM), lungs (PAVM), intestines, colon, or other internal organs also have a condition called Osler-Weber-Rendu disease (aka: Hereditary hemorrhagic telangiectasia - HHT), and this condition, as the name suggests IS hereditaty, and needs to be tested for. It is rather rare, and few general practitioners know of it . . . just make sure you have it checked out by someone informed!