Klippel-Trenaunay-Weber syndrome is the name given to a congenital malformation of the vessels. In this condition, affected individuals suffer from giant growths on their limbs.
What is Klippel-Trenaunay-Weber syndrome?
Klippel-Trenaunay-Weber syndrome is a symptom complex that is congenital. Malformations of the vascular system occur. Another feature is significant growth disturbances in the arms and legs. The disease is also known as Klippel-Trenaunay syndrome, angiectatic gigantism or angio-osteohypertrophic syndrome. Klippel-Trenaunay-Weber syndrome is congenital and rarely manifests itself. Thus, only about 1000 cases of the disease have been documented so far. The syndrome was named after the French physicians Maurice Klippel (1858-1942) and Paul Trenaunay (1875-1938), who first described the disease. The English physician Frederik Parkes Weber (1863-1962) also had a share in this description.
Causes
The exact causes of Klippel-Trenaunay-Weber syndrome could not be clarified so far. What is known is that during the first two months of pregnancy, there is a disturbance in vascular development that affects the blood and lymph vessels. This leads to the development of vessels that are immature and not fully functional. The extent of the maldevelopment varies from individual to individual. Thus, it is always a matter of unique clinical pictures. Disturbances of the blood circulation as well as the blood circulation can cause growth disturbances at the affected body parts. In addition, various concomitant diseases such as pelvic obliquity, scoliosis, functional impairment of the pelvic valves or knee joint arthrosis are also possible in children. Whether the excessive formation of vessels is the reason for the giant growth of Klippel-Trenaunay-Weber syndrome could not be clearly determined. Thus, other causes may also be considered, which are still unknown.
Symptoms, complaints, and signs
Typical symptoms of Klippel-Trenaunay-Weber syndrome include vascular malformations. It also manifests as giant stature, which is usually unilateral. In some cases, however, the opposite effect, i.e. short stature, is also seen. The deformities of the vessels become noticeable through lymphangiomas. These are benign tumors on the lymphatic vessels. Furthermore, port-wine stains form on the skin and reach a striking size. The giant growth also results in hypoplasia or aplasia of the leg veins and the development of varicose veins. Furthermore, soft tissue hypertrophy occurs. Arteriovenous fistulas may also occur on the arms and legs of some affected individuals. Since the legs of patients vary in length, it is not uncommon for those affected to suffer from gait disturbances. However, other problems caused by Klippel-Trenaunay-Weber syndrome are within the realm of possibility. These include bleeding. While they occur in children only due to injuries, which can also be minor, older people suffer from spontaneous bleeding from dilated vessels. Due to a blood clot (thrombosis), there is a risk of painful swelling of the limbs. In the worst case, the thrombosis causes a life-threatening pulmonary embolism. As the affected limb experiences increased blood filling, increased sweating may occur there. Patients often find these extremely unpleasant. Another common symptom is pain in the affected arm or leg. It is suspected that the discomfort is caused by the accumulation of blood. Thus, it exerts pressure on the joint capsules, muscles or nerves.
Diagnosis and therapy
Diagnosing Klippel-Trenaunay-Weber syndrome is complex. For example, it is necessary to examine all the vessels of the body to determine the exact extent of the disease. For this reason, sonography (ultrasound examination), pressure measurement and angiography are performed on the arteries. An ultrasound examination is also performed on the veins. In addition, light reflex rheography, phlebography and occlusion plethysmography are performed on them. Direct lymphography and lymph scintigraphy may be used to examine the lymphatic vessels. The physician examines bones and soft tissues by means of X-rays, a computer tomography (CT) or a magnetic resonance imaging (MRI).Which examination ultimately takes place differs from patient to patient. Due to the complexity of the vascular malformations, no cure for Klippel-Trenaunay-Weber syndrome can be achieved. In addition, complete normalization of the vessels is considered impossible.
Complications
In most cases, Klippel-Trenaunay-Weber syndrome results in various malformations, which occur mainly in the vessels of affected individuals. It is not uncommon for a giant growth to occur, which primarily affects the patient’s limbs. However, the affected person himself 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 may continue to form under the skin. It is not uncommon for patients to suffer from gait disturbances or other complaints when walking or running. The legs may also vary in length. Klippel-Trenaunay-Weber syndrome causes increased bleeding and also blood clots. As the disease progresses, the patient may also develop pulmonary embolism, which can lead to the patient’s death if left untreated. The joints are affected by pain and there is generally a reduced ability of the patient to bear weight. Treatment of Klippel-Trenaunay-Weber syndrome occurs with surgical intervention and can limit many symptoms. In some cases, psychological treatment is also necessary, although there are no particular complications.
When should one go to the doctor?
Klippel-Trenaunay-Weber syndrome is often diagnosed immediately after the child is born. If this is not the case, parents must inform the doctor as soon as unusual symptoms or complaints are noticed. For example, signs of short stature or giant stature should always be clarified by a specialist. Fistulas, gait disturbances or bleeding are also clear warning signs. Parents of affected children should talk to their pediatrician promptly if one or more of the above symptoms appear. The pediatrician can examine the child and rule out or diagnose Klippel-Trenaunay-Weber syndrome. If KTWS is the underlying cause, he or she will refer the parents to a specialist clinic for genetic disorders. The individual symptoms must be examined and treated by different specialists. For example, gait disorders require a visit to an orthopedist, while skin changes should be presented to a dermatologist. Those affected are usually less able to bear weight and more susceptible to bleeding and blood clots. Close medical monitoring prevents medical emergencies and contributes to the child’s rapid recovery. Medical therapy can be supported by therapeutic counseling.
Treatment and therapy
Treatment of Klippel-Trenaunay-Weber syndrome is not easy. Thus, neither a cure nor a restoration of the vascular system can be achieved. However, early detection in the first years of life plays an important role. Thus, it is possible to avoid a severe course of the disease or late sequelae by timely treatment. In some cases, operations are performed to remove excessively formed parts of the vascular system. These are mostly larger hemangiomas (blood sponges) or varicose veins. There is also the option to influence the length growth of an arm or leg. Individual vessels can be closed by the use of a catheter. It is also possible to selectively eliminate veins or arteries that are too large. 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 physiotherapeutic exercises are another therapeutic option. They are useful for improving joint mobility or limb mobility. Heel raises for shortened legs or compression stockings or compression sleeves help to improve the quality of life. Psychotherapy can also be important, as it helps patients cope better with their condition.
Outlook and prognosis
The cause of Klippel-Trenaunay-Weber syndrome has not been fully explained to date.As a result, treatment measures are individualized and no uniform therapy is applied. Although researchers and scientists are still working intensively to find the cause, the decisive breakthrough has not yet been made. Doctors receive the latest findings from the medical community and try to integrate them as best as possible when drawing up the treatment plan. The malformations of the vessels are treated according to the respective conditions and often have the goal of symptom relief. Complete 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 measures can be taken, the better the long-term results. Some patients will undergo one or more surgical procedures. These are associated with the usual risks and side effects. If no further complications occur, the overall situation usually improves after surgery. Patients with Klippel-Trenaunay-Weber syndrome must undergo long-term therapy throughout their lives. Regular check-ups are necessary to detect changes at an early stage and to be able to react accordingly. The various stresses caused by the disease lead to psychological sequelae in some sufferers. These further worsen the overall situation and must be taken into account when making a prognosis.
Prevention
It is not possible to prevent Klippel-Trenaunay-Weber syndrome. For example, it is a congenital disorder. In addition, the exact causes of the syndrome could not be determined.
Follow-up
In Klippel-Trenaunay-Weber syndrome, the first priority should be to diagnose the disease at an early stage to prevent further worsening of symptoms. An early diagnosis usually always has a very positive effect on the further course of the disease, so that the affected person should see a doctor at the first signs of the disease. Since this syndrome is a genetic disease, genetic testing and counseling should be performed if the patient wishes to have children in order to prevent the recurrence of the syndrome. Most of the affected people depend on the measures of physiotherapy and physical therapy. Some of the exercises from these therapies can be repeated in the patient’s own home, thus accelerating the healing process. Likewise, the support and help of other people or the parents in the daily life of the affected person is very important. This can also prevent possible psychological complaints or depression. With Klippel-Trenaunay-Weber syndrome, regular examinations by a doctor continue to be 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.
What you can do yourself
The options for self-help are very limited in 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 complaints. Therefore, a therapy has to start already in the early years of life. Most of the complaints are usually corrected and alleviated by surgical interventions. After the surgical interventions, the patients depend on measures of physiotherapy and physiotherapy to restore the mobility of the limbs. The various exercises can usually be performed in the patient’s own home, which can accelerate the healing process. Furthermore, wearing compression stockings can have a positive effect on the course of the disease and alleviate possible restrictions in everyday life. In general, however, patients are dependent on help in everyday life. In this context, help from close friends or from one’s own parents and relatives has a particularly positive effect on the course of the disease. In the case of psychological complaints, empathetic conversations with familiar people are also helpful. Frequently, contact with other people affected by Klippel-Trenaunay-Weber syndrome can also be helpful, as this leads to an exchange of information, which can improve the quality of life. However, the early detection of the disease is still in the foreground.
