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Klippel Trenanunay Weber syndrome: symptoms, causes and possible treatments

klippel trenaunay weber syndrome

Klippel Trenaunay Weber syndrome is a rare disease that leads to growth of limbs. Let's find out what it depends on and how to act when it occurs.

When we talk about Klippel Trenaunay Weber syndrome we mean a very rare disease that appears with varicose veins, arteriovenous malformations and a growth of the limbs.
Also known as angio-osteohypertrophic syndrome , this disease is congenital and currently without a definitive cure. However, there are several treatments that can be implemented and an exemption code to deal with it with less difficulty. So here's everything you need to know about this syndrome.

Klippel Trenaunay Weber syndrome: what it is and how it presents

This congenital vascular disease is considered quite rare and complex. Its peculiarity is in fact that it presents itself with three pathological complications . These are, as already mentioned, the appearance of varicose veins, arteriovenous malformations and asymmetrical growth of the limbs.

klippel trenaunay weber syndrome
klippel trenaunay weber syndrome

This last aspect turns out to be particularly serious as the excessive blood flow caused by the malformations leads to an alteration of the bone, stimulating its lengthening to which is added the growth of the limbs, especially during the growth period. These can grow in different ways and with discrepancies that can be slight but also serious, even exceeding 10 centimeters. The latter are usually noticed from childhood. In rarer cases, however, they can present up to adolescence.

Vascular malformation , on the other hand, usually occurs at birth and almost always involves a lower limb or, in more serious cases, even more limbs. In some cases it can even cover the entire body. Finally, varicose veins are usually found on the same side as the vascular malformation. To these three characteristics of the disease can also be added ulcers, dermatitis, glaucoma hyperthermia and in more extreme cases thrombophlebitis.

Causes and diagnosis of Klippel Trenaunay Weber syndrome

It is believed that this syndrome originates from a genetic mutation that occurs in the early stages of life of the embryo. This also affects only some cells while those not involved will develop normally.

Currently there are still several unanswered questions. However, it is thought that the PIK3CA gene may be involved, the mutation of which has been found in several cases.

Going to the diagnosis, this usually occurs after the appearance of the first veins or in the face of asymmetrical growth of the limbs. In general, the disease is therefore recognized after a careful screening which includes both radiological investigations and analyzes such as angiography, angio scintigraphy, Doppler and the like, aimed at identifying vascular problems.

How to cure the syndrome

To date, there is still no definitive cure for this syndrome. However, it is possible to act with different techniques based on the type of problem. For venous insufficiency, lasers can be used. Anti-inflammatory drugs and antibiotics can then be added to keep any episodes of thrombophlebitis at bay.

For arteriovenous malformations, punctures or catheter embolization can be used. There are also resection surgeries. It is also possible to act promptly with physiotherapy to block or prevent bone growth . While, for adults there are interventions capable of correcting or minimizing the asymmetry of the limbs.

Obviously, each treatment must be seen together with the treating doctor and will vary according to the type of symptoms, age and general situation of the patient. It may also be useful to know that according to science, the disease is not genetically transmissible , although in some cases a familiarity of the same is noted. As already mentioned, however, at the moment it is a disease under study and for which there are not all the answers.

The exemption code for this disease is RN1510 while for those who need support in dealing with this disease there are several associations that deal with rare diseases, accessible from the government website diseaserare .

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