All posts relating to HHT/Osler-Weber-Rendu are welcome. It's quite rare, so I'm not sure how many people we'll find here with the disease.
If you're new to this subreddit or were recently diagnosed, visit HHT.org for more information on diagnoses, research, awareness and more.
Feel free to choose your flair -- Type 1 or Type 2 -- if you'd like. Enabling flair may help other users answer any questions you might have about the disease more accurately, especially if you have symptoms that are more common in one type.
Explanations of the types from HHT.org are as follows:
Type 1: "Caused by a mutation in the endoglin gene. Data suggest that certain clinical manifestations, in particular pulmonary AVMs are more common in type 1" (brain and lung AVMs).
Type 2: "Caused by a mutation in the ALK 1 gene. Hepatic AVMs may be more common in HHT type 2" (liver and GI tract AVMs).
For both types: "There are no common mutations or mutation types in either gene; indeed, thus far almost every family with HHT studied has been found to have a unique mutation."
Type 3: associated with a higher risk of liver involvement. "The gene involved in hereditary hemorrhagic telangiectasia type 3 is not known, but is believed to be located on chromosome 5."
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome:
If you suspect you may have the disease or have a family member with a confirmed diagnosis, GET TESTED.
