A congenital malformation of the blood vessels is referred to as Klippel-Trenaunay-Weber syndrome. Those affected suffer from gigantism in their limbs.
What is Klippel-Trenaunay-Weber Syndrome?
Diagnosing a Klippel-Trenaunay-Weber syndrome is time-consuming. It is important to examine all the vessels in the body to determine the exact extent of the disease. See AbbreviationFinder for abbreviations related to Klippel-Trenaunay-Weber Syndrome.
The Klippel- Trenaunay -Weber syndrome is a symptom complex that is congenital. This causes malformations in the vascular system. Another feature is significant growth disorders on the arms and legs. The disease is also known as Klippel-Trenaunay syndrome, angiectatic giantism or angio-osteohypertrophic syndrome.
The Klippel-Trenaunay-Weber syndrome is congenital and presents only very rarely. So far, only about 1000 cases of illness have been documented. The syndrome was named after the French doctors Maurice Klippel (1858-1942) and Paul Trenaunay (1875-1938), who first described the disease. The English physician Frederik Parkes Weber (1863-1962) also contributed to this description.
Causes
The exact causes of the Klippel-Trenaunay-Weber syndrome have not yet been clarified. It is known that in the first two months of pregnancy there is a disruption in vascular development that affects the blood and lymphatic vessels. This leads to the formation of vessels that are immature and not fully functional. The extent of the maldevelopment varies from person to person. It is always a unique clinical picture.
Blood flow and blood circulation disorders can cause growth disorders in the affected parts of the body. In addition, various concomitant diseases such as a tilted pelvis, scoliosis, loss of function of the pelvic valves or arthrosis of the knee joint in children are possible.
Whether the excessive formation of vessels is the reason for the gigantic growth of the Klippel-Trenaunay-Weber syndrome could not be determined with certainty. There are also other possible causes that are as yet unknown.
Symptoms, Ailments & Signs
The typical symptoms of the Klippel-Trenaunay-Weber syndrome include vascular malformations. There is also giant growth, which usually occurs on one side. In some cases, however, the opposite effect, i.e. short stature, can also be noted. The deformities of the vessels are noticeable due to lymphangiomas. These are benign tumors on the lymphatic vessels. Furthermore, port-wine stains form on the skin, which reach a striking size.
Giant growth also results in hypoplasia or aplasia of the leg veins and the development of varicose veins. Soft tissue hypertrophy also occurs. Arteriovenous fistulas can also occur on the arms and legs in some people. Since the legs of the patients have different lengths, those affected often suffer from gait disorders.
However, there are other problems from the Klippel-Trenaunay-Weber syndrome in the realm of possibility. These include bleeding. While they only occur in children as a result of injuries, which can also be minor, older people suffer from spontaneous bleeding from dilated vessels. A blood clot (thrombosis) can cause painful swelling of the limbs. In the worst case, the thrombosis causes a life-threatening pulmonary embolism.
Since the affected limb becomes more congested, increased sweating can occur there. Patients often find this extremely uncomfortable. Another common symptom is pain in the affected arm or leg. It is assumed that the symptoms are caused by the accumulation of blood. It puts pressure on the joint capsules, muscles or nerves.
Diagnosis & Therapy
Diagnosing a Klippel-Trenaunay-Weber syndrome is time-consuming. It is important to examine all the vessels in the body to determine the exact extent of the disease. For this reason, a sonography (ultrasound examination), a pressure measurement and an angiography are carried out on the arteries. An ultrasound examination is also carried out on the veins.
In addition, light reflex rheography, phlebography and closure plethysmography are performed on them. Direct lymphography and lymph scintigraphy can be used to examine the lymph vessels. The doctor examines bones and soft tissues using X-rays, computed tomography (CT) or magnetic resonance imaging (MRI).
Which examination ultimately takes place differs from patient to patient. Due to the complexity of the vascular malformations, the Klippel-Trenaunay-Weber syndrome cannot be cured. In addition, complete normalization of the vessels is considered impossible.
Complications
In most cases, the Klippel-Trenaunay-Weber syndrome leads to various malformations, which mainly affect the vessels of those affected. It is not uncommon for giant growth to occur, which primarily affects the patient’s limbs. However, the person concerned can also suffer from short stature.
The vessels are deformed and tumors form on them. As a rule, however, the tumors are benign, although port-wine stains can continue to form under the skin. It is not uncommon for patients to suffer from gait disorders or other complaints when walking or running. The legs can also have different lengths.
The Klippel-Trenaunay-Weber syndrome leads to increased bleeding and blood clots. In the further course, the patient can also develop a pulmonary embolism, which if left untreated can lead to the death of the patient. The joints are affected by pain and the patient’s capacity to exercise is generally reduced.
The treatment of the Klippel-Trenaunay-Weber syndrome takes place with the help of surgical interventions and can limit many symptoms. In some cases, psychological treatment is also necessary, although this does not lead to any particular complications.
When should you go to the doctor?
The Klippel-Trenaunay-Weber syndrome is often diagnosed immediately after the birth of the child. If this is not the case, the parents must inform the doctor as soon as any unusual symptoms or conditions are noticed. Signs of short or giant stature should be clarified in any case by a specialist. Fistulas, gait disorders or bleeding are also clear warning signs. Parents of affected children should speak to the pediatrician promptly if one or more of the symptoms mentioned occur. This can examine the child and exclude or diagnose the Klippel-Trenaunay-Weber syndrome.
If the KTWS is the basis, he will refer the parents to a specialist clinic for genetic diseases. The individual symptoms must be examined and treated by different specialists. A visit to the orthopedist is necessary for gait disorders, while skin changes should be presented to a dermatologist. Those affected are usually less resilient and more prone to bleeding and blood clots. Close medical supervision prevents medical emergencies and contributes to the child’s speedy recovery. The medical therapy can be supported by a therapeutic consultation.
Treatment & Therapy
Treating Klippel-Trenaunay-Weber Syndrome is not easy. In this way, neither healing nor restoration of the vascular system can be achieved. However, early detection in the first years of life plays an important role. In this way, it is possible to avoid a serious course of the disease or long-term effects through timely treatment.
In some cases, surgeries are performed to remove excessively attached parts of the vascular system. These are usually larger hemangiomas (blood sponges) or varicose veins. There is also the option of influencing the growth in length of an arm or leg.
Individual vessels can be closed by using a catheter. The targeted elimination of veins or arteries that are too large is also possible. For this purpose, a small artificial plug or liquid plastic is injected. In addition, various lasers can be used to close vessels on the surface or in deeper areas.
Physiotherapeutic measures such as lymphatic drainage or physiotherapy exercises are another therapy option. They are useful for improving joint mobility or mobility of the limbs. Increased heels for shortened legs or compression stockings or compression sleeves contribute to improving the quality of life. Psychotherapy can also be important, as it helps patients to cope better with their illness.
Outlook & Forecast
The cause of the Klippel-Trenaunay-Weber syndrome has not yet been fully explained. As a result, the treatment measures are individual and no uniform therapy is used. Although researchers and scientists are still working intensively on investigating the causes, the decisive breakthrough has not yet taken place. Doctors receive the current findings of the physicians and try to integrate them as best as possible when creating the treatment plan. The malformations of the vessels are treated according to the respective circumstances and often have the aim of alleviating the symptoms. Full recovery is often not achieved.
The start of the first therapy depends on the diagnosis and is decisive for the further course of the disease. The sooner action can be taken, the better the long-term results. Some patients will have one or more surgical procedures. These come with the usual risks and side effects. If no further complications occur, the overall situation usually improves after an operation.
Patients with the Klippel-Trenaunay-Weber syndrome have to undergo long-term therapy over the entire lifespan. Regular check-ups are necessary in order to recognize changes at an early stage and to be able to react accordingly. The various stresses caused by the disease lead to psychological complications in some of those affected. These further worsen the overall situation and must be taken into account when making the forecast.
Prevention
Preventing the Klippel-Trenaunay-Weber syndrome is not possible. It is a congenital disease. In addition, the exact causes of the syndrome could not be determined.
Aftercare
In the case of the Klippel-Trenaunay-Weber syndrome, the disease should primarily be diagnosed at an early stage so that the symptoms do not worsen further. An early diagnosis usually has a very positive effect on the further course, so that the person concerned should consult a doctor at the first sign of the disease.
Since this syndrome is a genetic disease, genetic testing and counseling should be carried out if you wish to have children in order to prevent the syndrome from recurring. Most of those affected are dependent on the measures of physiotherapy and physical therapy. Some of the exercises from these therapies can also be repeated at home, which speeds up healing.
The support and help of other people or the parents in the everyday life of the affected person is also very important. This can also prevent possible psychological complaints or depression. In the case of the Klippel-Trenaunay-Weber syndrome, regular examinations by a doctor are very important so that further damage to the vessels can be detected early. As a rule, this disease does not reduce the life expectancy of those affected.
You can do that yourself
The possibilities of self-help are very limited in the case of the Klippel-Trenaunay-Weber syndrome. An important point here is the early detection and diagnosis of the syndrome, as this can prevent further complications and serious symptoms.
Therapy must therefore begin in the early years of life. Most complaints are usually corrected and alleviated by surgical interventions. After the surgical intervention, the patients are dependent on measures of physiotherapy and physiotherapy to restore the mobility of the limbs. The various exercises can usually be carried out at home, which can speed up the healing process. Furthermore, wearing compression stockings can have a positive effect on the course of the disease and alleviate possible limitations in everyday life.
In general, however, patients are dependent on help in everyday life. Help from close friends or from your own parents and relatives has a particularly positive effect on the course of the disease. In the case of psychological complaints, empathetic conversations with people you trust are also helpful. Contact with other people affected by the Klippel-Trenaunay-Weber syndrome can often be helpful, as this leads to an exchange of information, which can improve the quality of life. However, the priority is still the early detection of the disease.