KT-S and PW-S... some of what I've learned so far

General
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To recap and expand...

Just a couple quick thoughts on Parkes Weber Syndrome and Klippel Tranaunay Syndrome.

The MAJOR difference between PWS and KT is that PWS is 'high flow', where as KT is 'low flow'. High flow results from the involvement of shunting by way of AV fistulas. Something not inherent to KT. As a result, PWS eventually results in high flow cardiac failure.

Also, the treatment of the two diseases can be different, and doctors familiar with KT may not always realize this. Specifically, debulking and vein stripping will very likely result in serious complications in PWS. Also, embolization (NBCA and particulate) and sclerotherapy should be used only when cardiac failure is moderate to severe, as these procedures often result in greater vascular malformation presentation in the long run, especially fistulas and nidus formations. Think Lernaean Hydra - get rid of one nidus/aneurysm and two more grow in its place - this has shown to be especially true for large scale deep tissue sclerotherapy sessions. Anti-angiogenic drugs (once/if they get approved) should help with this.

Finally, involvement of large aneurysms (greater than 30mm) should include blood thinners to prevent vascular trashing (I learned this one the hard way). A low molecular weight heparin, like Fragmin, seems to work well at 10,000 UI. The daily injections suck, but vascular episodes suck more.

Couple other q's that came my way...

Both KTS and PWS are known as 'genetic mosaic diseases' which result from mitotic recombination. They are NOT inheritable. So, if you are a parent, you did NOT give this to your child. If you have it, you CAN NOT give it to your offspring.

Also - KTS is extremely rare - PWS is even more so.

If you have KTS - there is the http://k-t.org/ website you may want to check out.

If you have PWS... let me know - I've yet to meet anyone else.

Both KT-S and PW-S can be disabling - although they present differently in each case. But, fret not - I'm living proof that you can live a full and happy life.

Sean

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Hi Elieen,

I wouldn't be too hard on yourself for not knowing everything these diseases presents. I don't think that is your responsibility as a moderator. Besides, trying to stuff your mind with all there is to know would be maddening (... something I should probably take to heart myself).

With that said... vascular trashing is different from thrombosis. Google "Trash hand" or "trash foot" or "Blue toe syndrome". Basically, it occurs when the vascular pathways get blocked and your extremity has it's blood supply cut off.

I hear you on the thrombosis issue... fortunately, the Fragmin has helped me with this too. Has made a significant difference in the intensity. Unfortunately, it does little to help the DVT in the larger aneurysms - not much does.

Lernean hydra... it's apt given that any invasive procedures inherently causes damage, which kicks the angiogenesis process into overdrive, and results in more vascular growth. Cut out one vascular malformation, and two more grow its place...

There is some debate regarding the RASA1 Gene inheritance theory - but it's speculative at best. There is simply too small a population size to say anything conclusive about that study. And in truth, having read the study, its full of far too many assumptions and leaps in logic. The Mitotic mosaic theory still has far more credibility from my perspective. Statistically, it is far more probable that your grandfather simply had an aneurysm because he had an aneurysm than there being any genetic link. But again, there are several opinions on this one - and of course, I tend to value my own more ;)

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Vascular access steal syndrome is something I went through when going through my growth spurt as a kid... it occurs when the blood is shunted in part of the body (usually by an a-v fistula), and 'steals' the blood away from another. For me, this resulted in passing out all time due to my arm stealing blood from my head.

In my case, the excess volume and shunting created by PWS my arm meant that I simply couldn't keep the blood pressure high enough in the rest of my body - I just couldn't keep it flowing up to my head. Simply laying down, or raising my arm over my head seemed to solve this one for me.

And yes... genetic mosaic diseas ocure in the first trimester. And there is some indication that the placenta is somehow to 'blame' for the genetic mix-up where AV malformations are concerned. I'm just not entirely sure that I fully understand the mechanism myself.

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Hi Sean, my daughter Mia has AVM's in her right leg - around her knee and her ankle - she has a portwine stain over two-thirds of her right foot. We have only been told that she has AVMs and hemi-hypertrophy but no-one has mentioned PWS and she does have high flow in the whole leg. She has currently had 2 embolizations and the radiologists are not planning any more as they do not think they have helped and could cause more damage. The problems for Mia are terrible ulcerations around her ankle and heel due to the high flow breaking down the skin and constant intense pain. She is unable to wear a shoe or walk. Do you know if her treatment would be any different with a PWS diagnosis?

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From what you describe, that is exactly like PWS. Depending on where you live and your level of health insurance, I would suggest that you take her to see a clinic specializing in it. The Gonda Vascular Clinic at the Mayo is good.. as are others.

As for treatment - moderation and erring on the side of caution is best from my experience. Each case is very different in many ways, and treatment needs to be tailored to the individual.

My ulcerations are fairly minor, but I find that a combination of polysporin and 'after sun' cream (w/ vit E) works well. A dermatologist would know best - and I would seek one out if you haven't done so already.

As for the intense pain - I find that meditation works well (google Jon Kabat Zinn), and there are several pain management clinics that promote non-medicinal techniques that have worked well for me... taught me things like pacing my day, using energy wisely, focusing on having healthy fun (and not feeling guilty about stating my needs). Also, I take Advil for the swelling (works well for me), and hydromorphone for when I feel 'panicked' by being trapped by the pain.

How old is Mia?

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Jaycee, I am working on developing a list of doctors who have experience with KTS and PWS. Members on the KTS group on FB have recommended Professor de Sweit, who rotates through several locations in the UK, Professor Baskerville at King's College Hospital in London, and Dr. Taibjee in Birmingham, as well as Dr. George Hamilton at the Royal Free Hospital in London. If you meet with any of them, please report back.

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Hi Sean thank you so much for your reply. We are in the UK and are currently under a team including dermatologist, plastics, pain, IR, physio etc at Great Ormond Street Hospital in London. We do get very good continuity of care but I am feeling very despondent on Mia's behalf at the moment as we seem to be in a Catch 22 situation. Even if, big if, we get one ulceration to heal, another will probably break out which means she is obviously prone to more 'explosions' and there does not seem to be any other surgical options. Mia is just 12 years old and she doesn't even know about AVM Survivors yet.

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Dancermom you are amazing! You always have something positive to say to everyone. I will look into the names you mention here. We are already looking at someone in Birmingham. Thank you so much.

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Hello Sean,

My son has all of the symptoms of parkes weber. You can check out a phot of him on my page. I’m just now learning about all of this and I am glad to know someone else out there that has pws and has lived a long life. We are sorting through all the treatment options now. If you have any advice, please send our our way. He does have high output cardiac failure. Therefore, embolization seems eminent.

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My daughter has Parkes Weber syndrome.