Klippel-Trenaunay-Weber Syndrome Causes and Treatment

On Jan. 11, 1998, with the aid of a temporary court injunction, Casey Martin became the first pro golfer outside the Senior Tour to use a cart in a tournament sanctioned by the Professional Golfers Association Tour. And in true Hollywood fashion, Martin won the event.

Many words have been devoted to Casey Martin, his suit brought against the PGA Tour under the Americans with Disabilities Act, the issues raised, and the reactions to Martin's use of the cart in a sport where such motorized conveyances have historically been taboo for the PGA Tour. Other golfers have not been loath to comment upon the Casey Martin matter. Those opposed to Casey's cart have included young Tiger Woods (who was Martin's roommate at Stanford) and the senior legend Arnie Palmer (who feels that, if he can still trek around 18 holes at his age, so can whippersnappers like the 25-year-old Martin).

Little attention has been paid to the disease itself, Klippel- Trenaunay-Weber (KTW) syndrome, which is the reason why Casey Martin needs to ride in a golf cart. The press has recycled phrases such as "a congenital circulatory disorder."

For example:

  • Casey Martin has "Klippel-Trenaunay-Weber syndrome, a congenital circulatory disorder that causes severe swelling in his right leg" (Charlie Nobles, in The New York Times)
  • "Martin suffers from a congenital circulatory disorder in his right leg...which causes severe swelling and pain, and is incurable" (Garry Smits, in The Florida Times-Union)
  • Martin has "a congenital circulatory disorder that hinders his ability to walk" (Marcia Chambers, in The New York Times)
  • "Martin (is) afflicted with Klippel-Trenaunay-Weber syndrome, congenital circulatory disorder that causes severe pain and swelling in his right leg..." (Pulitzer Prize-winning journalist Dave Anderson, in The New York Times)

What is this disease with the unwieldy, easily-forgotten name? Klippel-Trenaunay-Weber (KTW) syndrome?

Among the key abnormalities in KTW syndrome is the triad of asymmetric limb hypertrophy, hemangiomata, and nevi. We'll take each of these components, one at a time.

By "asymmetric limb hypertrophy" is meant enlargement of one limb and not the corresponding limb on the other side. The enlarged limb is three times more likely to be a leg and not an arm in KTW. However, KTW is a somewhat erratic condition, one that is loath to follow hard and fast rules so that, for example, upon occasion there is enlargement of two limbs or a buttock or part of the trunk of the body. The enlargement is always not just of soft tissue but of bone, too.

The hemangiomas (or, to use the proper Greek ending, hemangiomata) are abnormal nests of blood vessels. The vessels proliferate inappropriately and excessively. In KTW, the hemangiomas cover a remarkable range from small innocuous capillary hemangiomas ("strawberry marks") to huge cavernous hemangiomas. There can be sinuous varicosities, what are called "phlebectasia" and "telangiectasia", and so on -- an astounding array of vascular lesions.

The nevi are the third component of the triad of "asymmetric limb hypertrophy, hemangiomata, and nevi." The nevi are pigmented moles on the skin. In KTW there are often also dark linear streaks on the skin, streaks due to too much pigment.

KTW does not always consist merely of the triad of "asymmetric limb hypertrophy, hemangiomata, and nevi." There can be other, far less frequent abnormalities. However, the triad is the consistent clinical centerpiece of KTW.

How is KTW syndrome classed in the annals of medicine?

KTW is a congenital condition. That is, it is present at birth. (In some cases KTW is not detected right away at birth, but becomes evident, instead, in early childhood).

The abnormalities making up the KTW triad are malformations. Since they are congenital malformations (birth defects), KTW is accordingly classed as a congenital malformation syndrome.

What causes KTW?

Putting the three components of the KTW triad together is a challenge. The overgrowth of part of the body and the overgrowth of blood vessels would logically seem related and the nevi could be due to overgrowth (or overactivity) of the pigment-producing cells (the melanocytes) in the skin. Logic be damned. The regions of limb and truncal overgrowth do not necessarily coincide with the regions with the hemangiomas and other vascular lesions.

Could KTW be inherited? Most cases of KTW are sporadic. They occur without warning, with no prior case in the family. Hence, there is little evidence that KTW is genetic. In fact, at this time in early 1998, no one has a ghost of an idea what causes KTW.

What is the outlook with KTW? What is the prognosis for Casey Martin?

Most persons with KTW have an enlarged leg and they do relatively well without any treatment or, for example, with only compression from an elastic stocking. Casey Martin would appear, unfortunately, to belong to the minority whose swollen leg becomes bothersome. He reportedly has considerable pain when he tries to walk 18 holes. Skin ulcers and other skin problems can occur over the swollen leg.

Usually, the treatment is conservative. Surgery is almost never needed. The only possible exceptions are the very rare situations in which the leg reaches gigantic proportions or secondary clotting difficulties arise (due to trapping and destruction of blood platelets in a huge hemangioma). Then, amputation may become necessary.

The most conservative action in Casey Martin's case would be for the PGA Tour to relent and permit Mr. Martin some relief of his pain by use of a golf cart. If the PGA Tour does not care to give way, a court decision may force it to do so.


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