Why a lesson in plumbing?
The human body survives through a network of flexible pipes that are designed to (1) feed our muscles, ligaments, bones and brains, and (2) to clean up after the feeding frenzy. Clean up returns usable material to our lungs and heart for recycling and dumps toxic waste that is unsafe or impractical for recycling. So like house plumping, human plumbing consists of pipes that deliver, vessels that hold, and pipes that discard. Respectively, these features are arteries and capillaries, followed by muscles and skeletal components, and ending with capillaries, veins and lymph vessels.
Klippel-Trenaunay Syndrome (K-T) corrupts the construction of the majority of the aforementioned plumbing, as follows:
All of my K-T cohorts are born with venous malformations which are somewhere, but not usually everywhere. These aberrations are not seen by the naked eye. The exception would be varicosities to the peripheral veins which where the veins closest to the surface of our skin. These cause our veins to puff up and become visible. The latter condition not usually visible at birth likely shows early in childhood and continues to show more and more as we age.
Most of my K-T cohorts are born with port wine stains which are patches of skin that appear colored in muted reds that regularly turn deep purple when exposed to colder rooms or colder weather. These odd mosaics are caused by capillary malformations which when visible to the naked eye tend to be flat in appearance leading early observers to improperly call these birthmarks. These usually do not grow in size or shrink over time – these tend to be visually stable other than the very fluid and cyclical changes in color.
Many of my K-T cohorts are born with messed up lymph vessels which are often not apparent at birth. Typically the outward signs of these aberrations are mild to gross swelling of the areas where the vessels are malformed and/or lymph fluids bubbling up through the skin. Often mistaken for water blisters, blood blisters or dark black pimples, K-Ters call the latter outbreaks blebs. In the more advanced cases the body tissues can swell quite a bit giving the affected area the appearance of blowing up like a balloon.
It’s best to think of K-T as an active agent during pregnancy. The difficulty in understanding its destructive force is the very nature of the components it has affected and the reality that it does its work during gestation. The physical change it makes to veins, capillaries and lymph vessels are not generally visible to the naked eye. Those aspects which are visible only hint at possible complications, but are not prescriptive in and of themself. Further, modern medical technologies for most cases are not useful at birth. Apparently, imaging technologies that peer under the skin do not accurately map vascular malformations until the child is older. Semi-invasive technologies like venograms can’t be done on babies due to their very small veins so this procedure waits for latter-childhood as well.
People have often asked me. Does K-T stay active after birth and continue to cause developmental problems. I believe the technically correct answer is no. The vascular system tends to be what it is once born. But this is no consolation to a major segment of the K-T community because they see major changes to their babies as they grow into young children, then teenagers, and then onto adulthood. If Klippel-Trenaunay is a gestational disorder why then do we continue to see dysfunctional changes in our bodies? For example, why do some of us see an affected leg grow longer and wider? Or, why do others develop problems with internal organs during puberty? It’s the blood. Well, to be more exact the blood delivery system. When the hidden vascular delivery system is larger or more diffuse the muscular-skeletal components are over-fed. This saturation of nutrients and oxygen provide the environment for disparate growth. While K-T itself is no longer active the destructive blueprint it left behind continues to mess with our developing components. As is the case in puberty, many of our body systems grow throughout our formative years.
The K-T story almost never ends with birth or childhood. All humans understand this degenerative reality. We get old and start falling apart. This process for older KT kids (adults because we’re always kids at heart) can be accelerated by our malformations. There’s the somewhat common varicosities that worsen as gravity becomes our worst enemy. Bacteria that find convenient pathways to a struggling lymph system, which in turn cause complications such as cellulitis and sepsis. Constant and pervasive stasis ulcers in our feet, ankles and legs as perforater and other veins fail to support healthy maintenance of the skin. Knees that lock and then freeze due to corrupted connective and supportive tissues. Gastrointestinal walls that weaken and bleed through. Rectal bleeding encouraged by regular issues with gastrointestinal failures due to impacted bowels and weak rectal tissues. And so many more matters, as any vascular supported body systems and organs can be negatively affected by K-T impacted veins, capillaries and lymph vessels.
This is as good a time as any to point out that typically Klippel-Trenaunay Syndrome doesn’t redesign our arteries. So, when doctors see kids with arterial malformations their diagnosis is different. In these cases the term used is Parkes Weber Syndrome. Although to be quite frank, the medical literature and government classification systems are slow on the uptake. “Making the distinction is probably wise given the increased morbidity associated with arteriovenous malformations (Camila K Janniger, MD and Dirk M Elston, MD). Doctors in the know have been making these distinctions for years, yet it seems that bureaucracies and medical school programs have failed to clean up their paperwork. Therefore, you’ll see references to Klippel-Trenaunay-Weber Syndrome.
It is also worth noting that some capillary malformations are in a class unto themselves. These are called Hemangiomas and more properly are known as vascular tumors. Not like a tumor that we associate with cancer. A tumor because of the clinical manifestations these aberrations have. These tumors are capable of growing in size and in some cases can resolve themselves as well; that is, these can shrink. Visually I see Hemangiomas as being more localized or more concentrated. Like I imagine the more common cancer-type tumors these blood tumors look like pockets of out of control body fluids contained in small sacks. These sacks are closer to the skin than the vascular malformations common to K-T. I believe you will also find these conditions described as Vascular Birthmarks from time to time and thus creating some confusion for those new to Klippel-Trenaunay Syndrome, including doctors.
A basic discussion on the physical structures of the human body may be helpful to better understand both the visual cues and the internal complications attributed to Klippel-Trenaunay Syndrome. I’ll have to work on those. I haven’t touched a biology book in a long time.