Professor Kristiana Gordon
๐ค SpeakerAppearances Over Time
Podcast Appearances
You know, he comes in more for a chat now.
Because we're old friends.
But this condition gives you lymphedema of the legs that comes on after puberty, but it also gives you extra eyelashes.
That's what distichiasis is.
So you can look at someone in your clinic that has swollen legs from a young age and check in their eyes.
And if they've got one or two or maybe 50 extra eyelashes that grow inwards, you think, I think you've got lymphedema distichiasis syndrome.
I think you've got a mistake in the FOXC2 gene.
And then you can look very clever, do the gene test and prove it.
Yes, so they cause irritation.
Often these people will have been to the ophthalmologists for years and had these extra eyelashes lasered or plucked, but the ophthalmologists don't look below the neck.
So they haven't made the link that someone with swollen ankles and extra eyelashes might have this genetic condition.
And it's so important to make the diagnosis because these patients are at risk of heart valve problems, kidney problems and potentially some other things.
So it's really important that you can screen for anything else and pick it up before it's a problem.
But these patients have problems with their valves.
So that gene mistake that causes the extra eyelashes and the lymphedema, the lymphedema has occurred because that gene mistake has caused the valves to develop abnormally.
And I screened his son.
So we were able to pick up that his son was at risk and get him involved with the cardiac clinic as well because father and son both have the same heart valve problem.