The ISSVA Diagnostic Matrix / Protocol

[william anton lee]

ISSVA Diagnostic Matrix v2

Hello KT Companions,

This is the newly adopted diagnostic protocol from the ISSVA. Many of you discussed its implications in advance of largely because, in advance of the ISSVA announcement, many folks were being similarly diagnosed at Boston Children’s Hospital, Cincinnati Children’s Hospital or the Mayo Clinic (Rochester). You were bringing questions here about diagnosis using newer names or re-diagnosis from Klippel-Trenaunay Syndrome to a condition you had not heard of before.

The new terms have been a topic of conversation many times throughout the year and even still now. We thought it would be beneficial to have a graphic at our finger tips so the KT Awareness Campaign developed the attached. Very quickly we will follow with the more detailed explanation of this chart. In the meantime, we hope this helps to explain the macro world we live in, so to speak.

Curious? The classic Klippel-Trenaunay Syndrome diagnosis falls under the “CLVM” subclass, under Vascular Anomalies.  Please do not get to worried about labels.  Many of us who are diagnosed as having Klippel-Trenaunay Syndrome have long dealt with being variants from someone’s medical reference book. For example, we have all heard doctors insist that a “hypertrophy” component is required to be diagnosed with KT. In fact you will see language to this affect in the ISSVA notes.

It is not lost on me that many many doctors across the world follow the original classification guidelines by doctors Klippel and Trenaunay that spoke to a combined malformation requiring 2 of 3 components from a list of capillary malformations, vascular malformations and/or hypertrophy.  My doctor does and he is a long standing Vascular Surgeon with KT experience.  Through the power of the internet we participate in many support groups throughout the world.  Interestingly, many doctors outside the USA still use the Klippel-Trenaunay-Weber Syndrome diagnostic label, especially when arteriovenous malformations are found.

Can I make the point — Our medical diagnostic terminology is bit fluid and will likely be for quite some time. Twenty years hanging around with all of you demonstrates one thing for sure — no classic definition proposed, adopted, or used to date begins to explain the entirety of the variability we see in our population. That said, I sense that the attached ISSVA diagnostic matrix comes the closest to describing our community, especially as I look at the entirety of the Combined Vascular Malformations column.

The follow-up ISSVA Notes which are just about ready in handout form really get into the “differential diagnosis” too. These include a laundry list of things like Parkes-Weber, Sturge-Weber, PROTEUS, CLOVES, and the like. Even more spectacular is the Genetic references tables. Powerful stuff!  If you have a desire to help as a proofer, editor, researcher, or otherwise please let me know. Plenty of work to do.


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