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Klippel-Trenaunay-Weber syndrome

Synonyms: KTW syndrome, Klippel-Trenaunay syndrome, angio-osteohypertrophy syndrome, naevus vasculosus osteohypertrophicus; Parkes-Weber syndrome is a similar entity involving the presence of an arteriovenous malformation with high-flow vessel malformations and characteristic skin capillary changes, with associated skeletal or soft tissue hypertrophy (also known as haemangiectatic hypertrophy).

See also: Sturge-Weber syndrome.

Description

This syndrome is characterised by the presence of the following triad:

  • Port-wine stain (i.e. capillary haemangioma) affecting the skin of a limb
  • Varicose veins in the affected limb (affecting deep and superficial veins)
  • Bony and/or soft tissue hypertrophy in the affected limb.


The affected limb may also have abnormalities of lymphatic channels and drainage along with arterial malformations. Rarely, the condition can affect more than one limb, an internal organ or the head and neck. Blood flow through the capillary abnormalities in KTW syndrome is low velocity, in contrast to Parkes-Weber syndrome where there is a true arteriovenous malformation with high velocity blood flow.

Aetiology and Pathogenesis

This is unknown, though several theories exist. Damage or malformation of the sympathetic ganglia in-utero, damage to deep veins leading to venous hypertension, or mesodermal maldevelopment causing the formation of microscopic arteriovenous communications have all been suggested.1

The condition appears to be sporadic but there are families in whom the condition may be inherited in an autosomal dominant fashion with marked variation in penetrance. An abnormality in a gene locus on the long arm of chromosome 5 appears to be involved.2

Epidemiology

This is a rare sporadic condition and there are no available figures for its annual incidence or prevalence in the population.

Presentation
  • The characteristic capillary haemangioma will be visible from birth in the vast majority of cases (98% in one series).2
  • The skin lesion has a characteristic 'port-wine stain' appearance, being deep-purple in colour (in contrast to that of Parkes-Weber syndrome which appears bright red), with clear demarcation from normal skin.
  • Varicosities and limb hypertrophy are not always present at birth and may take several years to manifest.
  • Abnormal veins and marked varicosities may be present.
  • Limb hypertrophy may begin by affecting the digits only and cause macrodactyly, syndactyly, polydactyly or oligodactyly.
  • An increase in limb girth may be the only feature where soft tissues rather than bones are predominantly affected.
  • Limb-lengthening may present initially as gait disturbance.
  • If the head is affected then the syndrome may cause macrocephaly and/or mental retardation.
  • Lymphoedema may complicate the condition and contribute to the limb enlargement.
  • Rarely, the affected limb may show atrophy rather than hypertrophy.
  • Thrombophlebitis is a common consequence in patients with large venous varicosities.
  • If the cutaneous haemangioma is large it may cause a consumptive coagulopathy known as Kasabach-Merritt syndrome typified by anaemia, thrombocytopenia, prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT), reduced fibrinogen levels, and elevation of fibrin degradation products.
  • Pulmonary or venous thromboembolism may occur rarely as part of the Kasabach-Merritt syndrome.
  • Other features include:1
Differential Diagnosis
  • Parkes-Weber syndrome (where there is a high-flow arteriovenous malformation rather than capillary haemangioma)
  • Sturge-Weber syndrome (facial port-wine stain, epilepsy and hemiparesis)
  • Maffuci syndrome (rare dysembryoplasia causing cartilage and vessel tumors)
  • Proteus syndrome (rare hamartomatous disorder causing asymmetrical hypertrophy of a range of tissues, possibly afflicting Joseph Merrick, the so-called 'Elephant Man')
  • Congenital lymphatic atresia or obstruction
  • Kaposiform hemangioendothelioma
Investigations

Imaging of the deep venous systems may be carried out, most often using magnetic resonance imaging in a modern setting. Arteriography or duplex ultrasound scanning may be used to investigate the possibility of an arteriovenous malformation. CT scanning may be used to determine exact limb-length discrepancy as a prelude to any corrective surgery. Lymphoscintigraphy may be used to assess the lymphatic system and the cause of limb-length discrepancy.3

Management

There is no curative therapy and management aims to ameliorate the patient's symptoms and correct the consequences of limb-length discrepancy.

Conservative measures

  • Graduated compression garments help to reduce the effect of chronic venous insufficiency in the affected limb. Intermittent pneumatic compression pumps may also be used to the same effect.
  • Cellulitis and thrombophlebitis can be managed with antibiotics, limb elevation, analgesia and corticosteroids. Prophylactic aspirin ± anticoagulants may be used in those who have recurrent thrombophlebitis, or before surgery/during pregnancy.
  • Women who have the syndrome should avoid the use of hormonal contraceptive methods, due to the increased risk of venous thrombosis.
  • Pregnant women with KTW syndrome need careful monitoring due to a range of haematological, obstetric and anaesthetic complications.4

Active/surgical measures

  • Limb-length discrepancy may be treated with orthoses or orthopaedic surgery, depending on its severity.
  • Laser therapy can be used to lessen the cosmetic effect of the cutaneous stain.
  • Surgery may be used to treat severe venous malformations but remains controversial as long-term outcomes appear to be altered little by such intervention.
  • Endovenous laser therapy of the greater saphenous vein appears to help some cases of lower limb varicosity.
  • De-bulking surgery for grossly enlarged limbs is occasionally used but carries a significant risk of lymphatic and venous damage.
  • Amputation may be used in cases where the limb is of little functional use and causes severe complications.
Complications
  • Psychological problems due to cosmetic appearance
  • Skin bleeding
  • Venous ulceration
  • Chronic venous dermatitis
  • Secondary skin infection
  • Chronic paraesthesiae
  • Pulmonary or venous thromboembolic disease
  • Kasabach-Merritt syndrome (see presentation section above)
  • Thrombophlebitis
  • Cellulitis
  • Scoliosis
  • Gait disturbance
  • Erectile dysfunction in men due to disturbance of venous function5
  • Chronic pain in the affected limb
Prognosis

Life expectancy is largely normal, depending on the severity of the malformation and thus the likelihood of complications. About 10% of patients are affected by pulmonary embolism.3 There may be significant morbidity associated with the condition but most patients do well with conservative therapy and lead relatively normal lives. Amputation is rarely needed.


Document references
  1. Lisko J, Fish F; Klippel-Trenaunay-Weber Syndrome. eMedicine, October 2006; Good overview from dermatology viewpoint.
  2. OMIM - Klippel-Trenaunay-Weber Syndrome, 2006; (Genetic detail).
  3. Tonsgard J; Klippel-Tranaunay-Weber Syndrome. eMedicine, April 2006; Overview from paediatrics viewpoint.
  4. Sivaprakasam MJ, Dolak JA; Anesthetic and obstetric considerations in a parturient with Klippel-Trenaunay syndrome. Can J Anaesth. 2006 May;53(5):487-91. [abstract]
  5. Agrawal V, Minhas S, Ralph DJ; Venogenic erectile dysfunction in Klippel-Trenaunay syndrome. BJU Int. 2006 Feb;97(2):327-8. [abstract]

Internet and further reading Acknowledgements EMIS is grateful to Dr Sean Kavanagh for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2008.
DocID: 1679
Document Version: 21
DocRef: bgp24876
Last Updated: 14 Nov 2006
Review Date: 13 Nov 2008
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