K-T: My Syndrome, My Medical Condition

Comment Bubble

… an introduction and overview

As obvious and gross (in a medical sense) as it is, every doctor who saw me from birth through adulthood had no professional curiosity to better understand its life and medical consequences. It was my own advocacy that drove me to finally locate the small group of doctors whose curiosity exceeded the others’ lazy implementation of healthcare. And even so, the wonderful doctors who finally diagnosed me didn’t have instructive materials that better defined my condition or common sense explanations of the whys and what fors.

So in my own words, Klippel-Trenaunay syndrome is a congenital and developmental, non-inheritable syndrome that is clinically identified using imaging technologies and is foundationally-based on an aggregation of vascular malformations, which may also include lymphatic malformations. These malformations, in and of themself, are counter-productive and singularly, or in combination, impair and modify the development, normal use, and long-term function of correlated muscular, neurological, skeletal, and internal life systems.

Complications from respective vascular and lymphatic malformations are known to cause chronic and degenerative venous insufficiency, progressive varicosity of the veins, recurrent stasis ulcers, blood pooling, lymphatic pooling and swelling, bleebs, rectal bleeding, G-I bleeding, life-threatening cellulitis, mild to gross hypertrophy (limb or skeletal enlargement), unequal limb development (throughout childhood maturation), compromised internal organs, peripheral neuropathy, systemic muscular atrophy (over time), and/ or other related chronic and degenerative conditions including periodic reports of complications with pregnancy and child-birth. Most find their condition unique due to differing trigger points during the gestation process, yet commonality of conditions clearly point to abnormal development and maturation, and then (in or around puberty) the beginning of life-long degenerative conditions which directly correlates to time of use of limbs or sitting, wherein such activity interferes with gravitational assistance to impaired vascular and lymphatic circulation.

In particular candidates whose condition includes the absence of, or severe incompetence of, deep veins are advised NOT to wear prescription compression garments except under the strictest care from a vascular surgeon as constriction of the peripheral veins most often causes serious neurological damage in the area of application. Likewise, any medical procedure that removes or closes down peripheral veins can not be undertaken except as the result of deep vein studies performed at the bequest of K-TS experienced vascular surgeons or intervention radiologists. To do otherwise is to risk the amputation of limbs when said peripheral veins are the only competent vascular pathway for returning blood to the heart. This syndrome advises “caution” over “expediency”, and “track record” over “genius”.

The most visible feature of Klippel-Trenaunay Syndrome is the appearance of a Port Wine Stain. While not the predominant feature that causes the complications noted above, it is a strong indicator of where (internal and deeper) vascular, lymphatic and related systems are compromised. Please note that my condition is lower limb involved, others have upper limb, trunk, and/or neck and head involvement. I’ve been told that my condition, which is bi-lateral, is less frequent. Apparently, most of those affected are not bi-lateral. It bears repeating, do not confuse K-TS with vascular tumors, which are classified as Hemangiomas and clinically marked quite differently and respectively diagnosed and treated quite differently.

It’s best to understand K-T as fundamentally your young body screwing up during the gestation process and constructing your base plumbing wrong. Specifically, it is usually your return plumbing that is messed up. Depending on when the “vascular trigger” turns on and off your version of K-T will take on very different topologies and thus complications. A quick review of human biology will remind you that the vascular, lymphatic, neurological, muscular and skeletal systems develop simultaneously and interactively. In so much as the vascular system takes on a very special role during these times, its proper construction is key to the proper development of the other systems. For us, this is the big oops! That is why for some of us muscular-skeletal complications can be so dramatic.

 – – – – – – – –

Note:  This condition is not properly defined in the class of condition called “hemangioma” or “dermatological birthmark”. Some with this condition may also have additional complications with Arterial-Venous Malformations, and if these complications are more prevalent are better classified under a different condition called Sturge-Weber Syndrome or Parkes-Weber Syndrome.

Advertisements

3 thoughts on “K-T: My Syndrome, My Medical Condition”

  1. I commented on one of your other posts, but I’m seeking out other answers here. Do you have any lymphatic malformations? Is yours more prevelant in the veinous? My daughter has port wine stains on her fingertips of her right hand (two of her fingers), she has the purple bubbles on her fingers. I love your story on the color of the port wine stains because we notice the differing colors tend to go with her mood. If they are dark purple she is usually not feeling very well, but if she is happy they are the lighter red color. Her right arm has vein issues and is bumpy (until after her mass excision of her lymphatic malformation in her chest which caused swelling in her arm and was SO big it smoothed the bumps out). The team at Cincinnati Children’s never says “Klippel-Trenauny”-they keep it at the level of the areas is involves. We see Dr. Adams everytime we come in. It’s funny that everyone wants to see her when we are there. When she was born, the initial impression we got was that this was rare to have at birth-is it really that rare?? We were told that she has Klippel Trenauny Weber, but we really think the “weber” part doesn’t apply. We’ve met one other person with this in their arm-my mom knows him from her work and he lives in Alabama. We’re in KY-which makes the trips to Cinci much easier to deal with. Right now, we see more of the pediatric surgery team that deals with hemangiomas and vascular, but Dr. Adams keeps tabs on her I guess for everything else. It is such a waiting game and I think I drive myself crazy with the “what if’s”. It is amazing to see her from before her surgery to now and the difference it has made in her movements of her arm. I would love to be able to contribute to your site and I’m so glad I have just found this page. We need all the help and support we can get!

    Like

  2. Jennifer, we met at the conference in Rochester?

    To your questions, I have lymphatic issues but these by comparison to many other K-T Kids are much less severe. I still get the “blebs” which look somewhat like very dark, small blood blisters. We know these are pockets of lymphatic fluid, sometimes mixed with a very small amount of blood.

    I have to tell you that the doctors at Boston Children’s would not label me as having K-T as they insist on the patient having all three symptoms, including hypertrophy. I find that rigidity interesting to say the least. The K-T Kids all take on such unique topologies it seems inclusion would,be a better strategic approach. No matter, I’m comfortable to know that Mayo and other institutions are not so rigid. I say this not as a criticism of Boston. They rock. It goes to your reflections on names and the sometimes confusing application of names across the nation and world, as pertains K-T.

    Dr. Adams team rocks also. What a great team of doctors and humanists. It is refreshing to say the least to see doctors less fearful of doing surgery and helping these beautiful kids.

    Thank you for posting. Look forward to an exchange of ideas and the creation of our extended family.

    Like

Leave a Reply

Please log in using one of these methods to post your comment:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

This site uses Akismet to reduce spam. Learn how your comment data is processed.