- Klippel-Trénaunay-Weber syndrome
Name = Klippel-Trénaunay-Weber Syndrome
ICD10 = ICD10|Q|87|2|q|80
ICD9 = ICD9|759.89
OMIM = 149000
DiseasesDB = 29324
eMedicineSubj = derm
eMedicineTopic = 213
MeshID = D007715
Klippel-Trénaunay-Weber Syndrome or KTS is a congenital medical condition in which
blood vessels and/or lymph vesselsfail to form properly.
There exists some controversy over the terminology.
* The condition was first described by French physicians
Maurice Klippeland Paul Trénaunayin 1900 [WhoNamedIt|synd|1812] [M. Klippel, P. Trénaunay. Du naevus variqueux ostéohypertrophique. Archives générales de médecine, Paris, 1900, 3: 641-672.] and termed "naevus vasculosus osteohypertrophicus".
Frederick Parkes Weberdescribed cases in 1907 and 1918 that were similar but not identical to those described by Klippel and Trenaunay. [ F. P. Weber. Angioma-formation in connection with hypertrophy of limbs and hemi-hypertrophy. British Journal of Dermatology, Oxford, 1907; 19: 231-235.] [F. P. Weber. Hemangiectatic hypertrophy of Limbs - congenital phlebarteriectasis and so-called congenital varicose veins. British Journal of Children’s Diseases, 1918; 25: 13.]
* In 1965, Lindenauer proposed that when
arteriovenous fistulais present, the term "Parkes Weber syndrome" be used instead.cite journal |author=Lindenauer SM |title=The Klippel-Trenaunay-Weber syndrome: varicosity, hypertrophy and hemangioma with no arteriovenous fistula |journal=Ann. Surg. |volume=162 |issue= |pages=303–14 |year=1965 |pmid=14327016 |doi=] More recently, Cohen has supported separating keeping the terms distinct.cite journal |author=Cohen MM |title=Klippel-Trenaunay syndrome |journal=Am. J. Med. Genet. |volume=93 |issue=3 |pages=171–5 |year=2000 |pmid=10925375 |doi=10.1002/1096-8628(20000731)93:3<171::AID-AJMG1>3.0.CO;2-K]
ICD-10currently uses the term "Klippel-Trénaunay-Weber syndrome".
Symptoms and diagnosis
Although the cause and processes surrounding Klippel-Trenaunay Syndrome (KTS) are poorly understood, the birth defect is diagnosed by the presence of a combination of these symptoms (often on approximately ¼th of the body, though some cases may present more of less affected tissue):
* One or more distinctive
port-wine stains with sharp bordersFact|date=January 2008
* Hypertrophy of bony and soft tissues, that may lead to
local gigantismor shrinking.
* An improperly developed lymph system
Note: In some cases, patients may present without port-wine stains. Such cases are very rare and may be classified as atypical Klippel-Trenaunay Syndrome.
Note that KTS can either affect blood vessels, lymph vessels, or both. The condition most commonly presents with a mixture of the two. Those with veinous involvements are subject to an overall harder lifestyle due to the increased pain and complications.
The birth defect affects men and women equally, and is not limited to any racial group. It not certain if it is genetic in nature, although testing is ongoing. [http://www.k-t.org/pdf/Dr-Wand-Driscoll-Article-2-04.pdf] There is some evidence that it may be associated with a translocation at t(8;14)(q22.3;q13).cite journal |author=Wang Q, Timur AA, Szafranski P, "et al" |title=Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome |journal=Cytogenet. Cell Genet. |volume=95 |issue=3-4 |pages=183–8 |year=2001 |pmid=12063397 |doi=10.1159/000059343] Some researchers have suggested
VG5Qhas an association.cite journal |author=Barker KT, Foulkes WD, Schwartz CE, "et al" |title=Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? |journal= J. Med. Genet.|volume=43 |issue=7 |pages=613–4 |year=2006 |pmid=16443853 |doi=10.1136/jmg.2006.040790 |url=http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=16443853]
KTS is a complex syndrome, and no single treatment is applicable for everyone. Treatment is decided on a case-by-case basis with the individual's doctors.
At present, many of the symptoms may be treated, but there is no cure for Klippel-Trenaunay Syndrome.
Debulkinghas been the most widely used treatment for the syndrome, and has been used for decades. Progress has been made in this method over the course of the past couple decades, but it is still an invasive procedure, and has many complications. As other choices now exist for KTS patients, this method is generally reserved as a last resort. Mayo Clinichas reported the largest experience in managing KTS with major surgery. In 39 years at Mayo clinic the surgery team evaluated 252 consecutive cases of KTS, of which only 145 (57.5%) could be treated by primary surgery.cite journal |author=Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanson AW, Clay RP, Gloviczki P |title=Klippel-Trénaunay syndrome: spectrum and management |journal= Mayo Clin. Proc.|volume=73 |issue=1 |pages=28–36 |year=1998 |pmid=9443675 |doi=] The immediate success rate for treating varicose veins was only 40%, excision of vascular malformation was possible in 60%, debulking operations in 65%, and correction of bone deformity and limb length correction (epiphysiodesis) had 90 % success. All the procedures demonstrated high recurrence rate in the follow up. Mayo clinic studies demonstrate that primary surgical management of KTS has limitations and non-surgical approaches needs to be developed for offering a better quality of life in these patients. Major surgery including amputation and debulking surgery does not seem to offer any benefit on a long-term basis.
Sclerotherapyis a treatment for specific veins and vascular malformations in the affected area. It involves the injection of a chemical into the abnormal veins to cause thickening and obstruction of the targeted vessels. Such treatment may allow normal blood flow to resume. It is a non-surgical medical procedure and is not nearly as invasive as debulking. Ultrasound guided foam sclerotherapy is the state of the art new treatment which could potentially close many large vascular malformations. [cite journal |author=Cabrera J, Cabrera J, Garcia-Olmedo MA, Redondo P |title=Treatment of venous malformations with sclerosant in microfoam form |journal=Archives of dermatology |volume=139 |issue=11 |pages=1409–16 |year=2003 |pmid=14623700 |doi=10.1001/archderm.139.11.1409] [Treatment of KTS with foam sclerotherapy. Venous Research Foundation [http://www.venousresearchfoundation.com/About_venous.asp?SubCatID=32&ft=8740di$#^%&fd^%^dj&nm=4739h%$%vbcg^%^snb&uy=hdsid7%$*^*8279742] ] Debulking operations can result in major deformities and have a high potential for recurrence and nerve injuries.
Compression therapies are finding more use as of the last ten years. The greatest issue with KTS syndrome is that the blood flow and/or lymph flow may be impeded, and will pool in the affected area. This can cause pain, swelling, inflammations, and in some cases, even ulceration and infection. Among older children and adults,
compression garments can be used to alleviate almost all of these, and when combined with elevation of the affected area and proper management, can result in a comfortable lifestyle for the patient without any surgery. Compression garments are also used lately after a debulking procedure to maintain the results of the procedure. For early treatment of infants and toddlers with KTS, custom compression garments are impractical because of the rate of growth. When children may benefit from compression therapies, wraps and lymphatic massage may be used. While compression garments or therapy are not appropriate for everyone, they are relatively cheap (compared to surgery), and have few side-effects. Possible side-effects include a slight risk that the fluids may simply be displaced to an undesirable location (e.g, the groin), or that the compression therapy itself further impedes circulation to the affected extremities.
Other treatments are also available, including
* Scott Hudson
* [http://www.k-t.org The Klippel-Trenaunay Syndrome Support Group]
* [http://www.venousresearchfoundation.com/About_venous.asp?CatID=13&r=l936$#%^%&^*737&ux=fs^%$dfsg&uy=hdsid%$%gfg*^*782GF646$^79742 KTS gene discovery implications |KT syndrome ]
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