Klippel-Trenaunay syndrome (KST), also called capillaro venous lymphatic malformation (MCVL), is a rare, benign and congenital disease. List of symptoms and complications.
Definition: What is Klippel-Trenaunay Syndrome?
Today, when we wish to designate Klippel-Trenaunay syndrome, we use, according to the classification of the ISSVA (International Society for the Study of Vascular Anomalies (ISSVA)), the term capillaro venous lymphatic malformation (MCVL). “It is a combined syndrome that associates a slow-flow vascular malformation (capillary, venous and/or lymphatic), bone hypo/hypertrophy in perimeter and in length and a hypo/hypertrophy of the soft tissues with variations in the perimeter of the affected limb (for example in the event of muscle damage)“, explains Dr. Annouk Anne Bisdorff-Bresson, neuroradiologist. In this case, the affected member may then be a little longer and fatter only on the condro-lateral side where there is no malformation. The impairment exists from birth and grows gradually with the child. “The syndrome affects both men and women equally and rather young subjects“, adds Dr. Yasmine Benshali, angiologist.
What is the cause of Klippel-Trenaunay Syndrome?
It is benign congenital lesions. “The child is born with these lesions (congenital), but they are not hereditary (i.e. transmitted to his descendants), continues Dr. Bisdorff-Bresson. Of the somatic genetic mutations (existing in the affected malformative tissue) have been demonstrated in recent years, most of which are Pik3 Ca mutations“.
What are the symptoms of Klippel-Trenaunay Syndrome?
The symptoms differ from case to case and according to the extension. “The phenotype (external appearance) can vary depending on the type of vessel affected (capillary, venous or lymphatic) and whether or not it is associated with a bone and/or deep tissue hyper/hypotrophy (muscles for example)“, specifies the neuroradiologist. “If the patient has 2 of the 3 features (angioma(s), soft tissue and bone tissue enlargement, or venous dysplasia), Klippel-Trenaunay syndrome will be diagnosed.“, adds Dr. Benshali. The presence skin damage (also called “angioma” or cutaneous vascular spot), which correspond to “capillary” involvement, can be seen from birth. “The Klippel-Trenaunay syndrome (capillaro-veino-lymphatic malformation) can be evoked by pediatricians according to the clinical aspect, that is to say according to whether or not there is deep tissue invasion, and the specific clinical aspect“, continues the neuroradiologist. This benign combined syndrome grows gradually with the child. The pediatrician can then send the child, around 4-5 years, to an angiologist to perform an ultrasound. “This examination will look for underlying venous malformations and to evaluate the existence of the deep and superficial venous network as well as the absence or not of invasion of the deep parts, for example at the level of the muscles, details Dr Annouk Anne Bisdorff-Bresson. It will also allow you to watch if the deep venous system is hypotrophic (partially permeable or absent venous network) or hypertrophic (hypertrophic venous dysplasia)”. The child can also be referred to a Multidisciplinary Consultation “Superficial Vascular Abnormalities/Angiomas“. In all cases, multidisciplinary care (paediatrician, dermatologist, angiologist, radiologist, surgeon, etc.) is recommended in order to define together the therapeutic strategy to be adopted.
What are the complications of Klippel-Trenaunay Syndrome?
Klippel-Trenaunay syndrome (MCVL) can have an impact on the patient’s life, whether child or adult. Of course, you have to adapt your lifestyle. Restraint is essential and wear as much as possible. “However in a teenager this can be problematiccontinues Dr. Bisdorff-Bresson. It is therefore essential to explain to him that he has a “venous capital” for life and the sooner he preserves it the better he will live with his “malformation”. Complications differ from one patient to another, depending on the condition:
- venous (“we can have lesions following venous stasis, for example discoloration or skin pain”),
- capillary (erosions or small wounds in the skin, etc.),
- lymphatic (“presence of lymphatic vesicles which may ooze or present an entry point for possible mucocutaneous infections“).
Patients with Klippel-Trenaunay syndrome (MCVL) have a life expectancy of hope like that of the general population. The patient learns to live as well as possible with his syndrome. “Some patients will need to be monitored more during pregnancy, especially when there is a bleeding disorder associated with their malformation.“. In some cases, in the presence of an associated coagulopathy, this should be monitored during pregnancy. possible anti-coagulant treatment will be instituted on a case-by-case basis. “Similarly, dysplasia can affect the intra-abdominal and pelvic muscles; what constitutes a thromboembolic risk to be monitored in the event of pregnancy“, says Dr. Benshali.
What is the treatment for Klippel-Trenaunay Syndrome?
Therapeutic management is essentially based on simple clinical monitoring (every 1 year to 1 year and a half). The objective is “explain this syndrome and teach the patient how to live better“with this pathology which is benign but chronic.”The port of the venous contention is essential, as well as regular sports activity and avoid weight gain inconsiderate“, insists Dr. Annouk Anne Bisdorff-Bresson. In the event of leg length asymmetry >1.5 cm (measurable on clinical examination and by wearing compensation heel pads (sole or external) even orthopedic insoles can be advised. “Exceptionally a epiphysiodesis may be indicated (pediatric orthopedic surgeon): this involves interrupting the growth cartilage in order to to limit the asymmetry of lengthr“. In some cases, “of the embolizations, sclerosis or surgical excision “marginal veins” (i.e. supernumerary dysplastic veins) can be proposed, this after a multidisciplinary consultation”. These therapeutic strategies are taken in multidisciplinary consultation from clinical examination and imaging (ultrasound / Doppler mapping, phlebo-MRI, MRI …).
Thanks to Dr Annouk Anne Bisdorff-Bresson, coordinator responsible for the Multidisciplinary Consultation of Vascular Anomalies of the Neuroradiology Department of the Lariboisière AP-HP Hospital and to Dr Yasmine Benshali, angiologist, at the Clinique du Parc in Castelnau le Lez (34) .