Klippel-Trénaunay syndrome

What is Klippel-Trénaunay? syndrome?

Klippel-Trénaunay syndrome (KTS) is rare congenital vascular bone syndrome characterized by a triad of symptoms and characteristics; these are:

• Capillary vascular malformation (Port Wine stain)
• Venous malformation (eg, varicose veins)
• Member hypertrophy (usually affects only one limb) [1,2].

The syndrome is also called Klippel-Trénaunay-Weber syndrome, angio-osteohypertrophy syndrome, and hemangiectactic hypertrophy.

Who gets Klippel-Trénaunay syndrome?

Klippel-Trénaunay syndrome is a rare disease that affects one in 20,000-40,000 children. It affects both sexes equally and occurs in all races. [one]. Although it occurs mainly sporadically, some inherited cases have been reported [3].

What causes Klippel-Trénaunay syndrome?

While the exact cause of Klippel-Trénaunay syndrome is unclear, several genes and pathways have been identified in their Pathogenesis. Notably, PIK3CA gene mutations Klippel-Trénaunay syndrome has been detected in some cases. PIK3CA encodes a 3-kinase phosphoinositide subunit enzyme, which participates in the cell proliferation and migration. Gain function mutations can lead to tissue hypertrophy in bone, Soft fabricand blood vessels [2,4].

the angiogenic gene VG5Q it has also been implicated in Klippel-Trénaunay syndrome [5].

What are the clinical features of Klippel-Trénaunay syndrome?

Capillary vascular nevus

One or more capillary vascular malformations (port wine stains) are present in the overwhelming majority of patients with Klippel-Trénaunay syndrome and this is usually the first notable feature [1,2,6]. Commonly, capillary malformation occurs on the affected hypertrophic limb, but may also be present elsewhere. Rarely, the affected area may blister and bleed. [two].

Venous malformations

Varicose veins are a common feature of Klippel-Trénaunay syndrome. They tend to be larger than normal varicose veins and can be painful. Varicose veins may not be present initially. They usually become notorious in later childhood, childhood, or adolescence. Deep veins can also be affected, increasing the risk of developing deep veins. thrombosis (DVT) [1–3.6].

Also, vein formation can be atypical, Resulting in side persistent veins or sciatic veins (inflammation in the veins that go from the spine to the legs), for example. Bleeding can also occur, which can lead to bleeding from the rectum or blood in the urine. [6–9].

Malformations in Klippel-Trénaunay syndrome are slow-flow vessels, and there are no fast-flowing arteriovenous malformations (groups of blood vessels that join between arteries and veins). Murmurs (murmurs caused by narrowing of the arteries) tend to be absent on examination [8].

Limb hypertrophy

Hypertrophy of the extremities affects the lower extremity in most cases (around 95%), and the rest affects the upper extremity. Extremity enlargement is disproportionate, with the width of the leg widening more than the length, as the skin and muscles tend to thicken than other sites. The average difference in limb length is about 2 cm. The discrepancy in length can cause irregular gait, unsteady gait, or pain. The child may appear to have scoliosis [1–3,6,9].

Less frequently, syndactyly or polydactyly (additional fingers or toes) may occur.

What are the complications of Klippel-Trénaunay syndrome?

Possible complications of Klippel-Trénaunay syndrome include [1,2]:

• DVT due to deep vein malformations
• Pulmonary embolism
• Cellulitis
• Lymphedema
• Internal bleeding.

How is Klippel-Trénaunay syndrome diagnosed?

Diagnosis of Klippel-Trénaunay syndrome is made clinically when the classic port wine stain triad, varicose veins, and limb hypertrophy are present. Although a diagnosis of Klippel-Trénaunay syndrome in a newborn may be suspected when there is a port wine stain, confirmation comes later when other symptoms become more apparent [1–3].

Possible diagnostic tests include:

• Magnetic resonance imaging
• Magnetic resonance angiography
• Computed tomography (Connecticut) or CT venography
• Color duplex ultrasonography
• Ultrasound during pregnancy [3,10].

Which is the differential diagnosis for Klippel-Trénaunay syndrome?

Conditions that can be confused with Klippel-Trénaunay syndrome include:

• Parkes Weber syndrome: characterized by fast-flowing arteriovenous malformations and fistulas [8]

• Proteus syndrome: in which there are generally no obvious deformities / features at birth; Proteus syndrome occurs later with progressive and more generalized musculoskeletal deformities [11].

• Lipomatous macrodystrophy: In this form of limb hypertrophy, there is an absence of vascular soft tissue malformations and a lack of discrepancy in limb length. [12].

What is the treatment for Klippel-Trénaunay syndrome?

There is no specific cure for Klippel-Trénaunay syndrome, and in general, most patients can be treated conservatively. Specific treatments and procedures can also be used to reduce symptoms and prevent complications [1,6,10].

Conservative treatment

Compression stockings are often worn to control Varicose vein symptoms relieve pain and swelling, and prevent complications such as bleeding (in which case dressings, leg elevation, and rest are recommended) [1,10].

If the difference in leg length is small (<2 cm), se pueden recomendar elevadores de zapatos para permitir que el niño camine más fácilmente y prevenir la escoliosis compensatoria. La fisioterapia también puede ayudar a reducir la hinchazón en la extremidad afectada. [1,10].

Ligation and peeling

Ligation of the veins (the surgical union of the veins) can be used to treat varicose veins in conjunction with vein removal. (See DermNet NZ page on Venous Leg Therapies.) This treatment is not recommended in children. [1,7,10].

Sclerotherapy

Sclerotherapy refers to the injection of a sclerosing agent into the veins to collapse them. It is used to treat complications that arise from varicose veins, so they are no longer noticeable on the surface of the skin. It can be used in children after detailed explorations of the leg veins. Several sclerotherapy sessions are usually required months apart [1,7,10].

A variation of this procedure is foam sclerotherapy, which involves injecting a foaming agent (in addition to the sclerosing agent) into the veins [7].

To be therapy

Laser therapy can be used to treat or manage port wine stains, albeit in a limited way. It is also used to treat small varicose veins and as assistant for sclerotherapy or endovascular ablation (see below) [7,10].

Endovascular thermal ablation

Problematic varicose veins can be closed using high-frequency radio waves to create local heat in the affected vein. In general, this is associated with less risk and faster recovery compared to ligation and removal. [7].

Epiphysiodesis

If the asymmetry between the affected and unaffected legs is greater than 2 cm, an epiphysiodesis may be performed to slow growth on the affected leg. This procedure involves prematurely fusing the growth plate of a bone and it must be properly synchronized to coincide with the length of the legs at the end of the growth phase [6,7].

Alternatively, the normal leg can also be surgically lengthened to achieve the corresponding size [1].

What is the result of Klippel-Trénaunay syndrome?

Patients with Klippel-Trénaunay syndrome tend to perform well. While it is not a life-threatening condition and most patients end up leading normal lives, continued care is required. This is best provided by a multidisciplinary team of dermatologists, vascular and orthopedic surgeons and general surgeons [1,10]. Some people may require counseling to adjust to the cosmetic aspects of the disease. [3].