My sister died suddenly at 47

[19emma69]

Three years ago my sister died suddenly on her bus ride home , she was only 47 and a HHT sufferer. We have a strong family history of HHT. My mother had it and as far as I know her family did too, she was adopted, so this is sketchy. She came from Cinderford in the Forest of Dean and I have heard HHT is quite common here? My brother has it along with his 2 children, We had thought  that I had been lucky enough to escape it but my son was diagnosed 2 years ago as he has nosebleeds & a red spot on his lip. I have since got a spot on the end of my finger, I am 38.
My sister had had PAVM's which had been treated, Her autopsy reported Ischaemic heart disease, which after talking to Dr Shovlin seems unlikely as people with HHT do not suffer from heart disease? My doctor also looked at the pathologists report and said it was a bit vague. As you can imagine I am puzzled & concerned for the rest of us. Can anyone reply if they have had any similar incidences either with sudden death or vague pathologists reports Thankyou

[bubbles]

Hi Emma,

I am 43 now and got first spots on my finger tips about age 39 or 40.
Suddenly there were about 10 spots, almost (felt like) over night.
I've had nose bleeds since puberty, and pulmonary hypertension since age 30.
In my family some members are tested positve, despite having no signs of PH, while for example my little nephew died suddelnly, just 2 weeks after diagnosis aged 3 1/2.
It seems to be very different from individual to individual.

Here you find a scientific report about another family with very different representations of the desease: http://www.smw.ch/docs/pdf200x/2008/29/smw-12135.pdf

Best wishes to you and your whole family,

Bubbles
Germany

[David Matzdorf]

My sister had had PAVM's which had been treated, Her autopsy reported Ischaemic heart disease, which after talking to Dr Shovlin seems unlikely as people with HHT do not suffer from heart disease?

That's a bit of an exaggeration - someone may have told you something that isn't quite so.

When I heard at a conference in 2002 that HHT was associated with a reduced incidence of degenerative heart disease, I asked Dr Shovlin and she suggested that, although anecdotal evidence was all they had, it appeared that people with HHT were about 40% to 50% less likely to have heart disease.

I have two relatives in their mid-80s with HHT and neither has had serious heart disease. But some people with HHT do have heart disease and heart attacks.