Thanks for all of your answers. I have to say – you guys are a smart bunch. Pretty much everyone got HHT / Osler-Rendu-Weber syndrome right off the bat!
A few liked endocarditis – and it is reasonable I think. THe clincher that I did not give you was the history of recurrent nose bleeds.
A few learning points –
This lady had suffered anaemia for years, thought to be due to mennorhagia – which was there, but not in the volumes required for her quite profound anaemia, she never complained of GI blood loss or epistaxis until her late 40s. So it really comes down to the GP / primary care physician having a bit of a wonder and putting the unusual skin lesions together with the anaemia.
There is a good / extensive review of the disease in the European Journal of Human Genetics if you have a spare 20 minutes. It goes into the genetics, but if that bores you to tears – scroll to the bottom for some brief clinical notes and references.
I am going to give the prize to Dr Tim Leeuwenburg, from Kangaroo Island in South Australia. There were lots of you who got the diagnosis, but Tim is the winner for the following reasons:
- His practice is the most remote one out of the winners
- I grew up on KI and love the place
- I actually met Tim a few years back in Broome
- Tim has a great website and book on fine Australian cuisine – Wrong Side of the Road. For our international readers – you have to check this out – Tim has a cookbook for all the native Aussie Roadkill he sees on beautiful Kangaroo Island. Ah, takes me back to my childhood….yes, we do sometimes eat our national icons, those cute, furry marsupials you all go ga ga over in the tourist parks!!
Well done Tim, plenty of love and respect coming your way! Casey