Klippel-Trenone syndrome: photo, symptoms, treatment

Many diseases are formed even in the embryonic period. Therefore, it is not always possible to influence their development. After all, most of these pathologies are diagnosed only after the birth of a child. And some are much later. To one of the genetic ailments should be attributed the disease Klippel-Trenone. The syndrome was discovered in the early 20th century. This is associated with the emergence of such a science as genetics. Often this disease affects men. However, it is also found among the female population. Pathology is attributed to congenital vascular disorders.

Description of the Klippel-Trenone syndrome

The Klippel-Trenone syndrome is considered a rare genetic defect. To predict the development of this pathology is almost impossible, since the defect is rare and it is not diagnosed during pregnancy. However, in some cases, it is possible to suspect the disease of Klippel-Trenone. Syndrome refers to hereditary ailments. Therefore, pregnant women should be subjected to genetic analysis, in the family of whom there were cases of development of this pathology. Another name for the disease is hypertrophic hemangiectasia. The clinical picture of the Klippel-Trenone syndrome includes 3 main symptoms:

1. Varicose veins.
2. Appearance of pigment spots on the skin.
3. Changing the length and width of the affected limb.

In some cases, lesions of the skeleton and soft tissue hypertrophy are not observed. Often the pathology is characterized by a progressive course. The prognosis depends on the severity of the changes in the vessels. Despite the fact that the cause of the disease can not be eliminated, therapeutic measures help improve the quality of life of the patient. People suffering from this pathology are given a disability.

The causes of the development of the Klippel-Trenone syndrome

What is the cause of the Klippel-Trenone disease? The syndrome develops due to a genetic defect. This anomaly is transmitted according to the autosomal dominant type of inheritance. This means that if there is such a genetic defect in one of the parents, there is a probability of developing a syndrome in the child, which is 50%. Also, the disease can be transmitted through one generation, that is - from grandparents. In this case, the probability is 25%.

Like all genetic abnormalities, vascular defects develop during the period of the laying of the fetal tissues. This can be affected by damaging effects. These include factors such as:

1. Psychological discomfort in the first weeks of pregnancy.
2. Infectious diseases. Chronic viral damage to the body is of great importance.
3. The use of drugs that have a teratogenic effect.
4. Reception of narcotic substances shortly before conception and during pregnancy.
5. Smoking and alcoholism.
6. Air pollution by toxic substances, radiation.

All these factors can cause a restructuring in the body of a woman and a future child. Especially they are dangerous at the initial stages of pregnancy. After all during this period various anomalies can be formed.

Mechanism of disease development

Why do vascular changes occur in the Klippel-Trenone disease? The syndrome is manifested by signs of venous disturbances. The mechanism of development of pathology consists in blocking the outflow of blood from the lower limbs. This is due to the fact that the lumen of the veins narrows, artery compression, arterial branch, hypertrophied muscles, residual embryonic tissue occurs. Because of the violation of the outflow of blood, hypertension occurs. The veins are gradually thinner, damaged. In addition, the functioning of the valve apparatus is impaired. Because of the stasis of blood, the limb begins to hypertrophy. Due to stagnation, the trophic function suffers . Therefore, tissues are exposed to ischemia. Prolonged violation of the blood supply leads to sclerosing. Soft tissues are hypertrophic, there is fullness and swelling. In some cases, the bones also undergo changes. Because of this, the affected limb can not only increase in width, but also extend.

Clippel-Trenone syndrome: symptoms of the disease

The manifestations of the Klippel-Trenone syndrome include changes not only from the venous system, but also other defects. Despite the fact that the pathology is congenital, the first symptoms can be found in adolescence or adulthood. So, the clinical manifestations include the following violations:

1. Extension of superficial veins of lower extremities. It manifests a pathological tortuosity and painfulness in the course of the vessel visible to the naked eye. Most often, the veins are located on the outer surface of the foot.
2. Enlarged limb in size. Often accompanied by inflammation. Because of the stasis of blood, the aching leg can be very different from a healthy limb. Often it is hyperemic, the skin is thickened.
3. Elongation of the limb. Both legs and hands can be hypertrophied.
4. The appearance of pigmented nevi on the skin. In other words, these formations are called "wine spots".

In addition, with the progression of the disease, trophic changes appear. On the affected areas ulcerative defects can occur, which do not heal for a long time. Among other abnormalities developing in this pathology, there is polydactyly, the presence of interlocked fingers or toes.

How is the Klippel-Trenone disease diagnosed?

The diagnosis of the Klippel-Trenone syndrome is often based on clinical manifestations. Symptoms of the disease appear gradually. The first sign may be the emergence of "wine spots" or the expansion of veins. If these symptoms are combined with limb hypertrophy, a diagnosis is made: the Klippel-Trenone syndrome. Photos of people suffering from this disease are similar. They can be seen in the literature on rare genetic pathologies. Therefore, the diagnosis is often not difficult.

In addition to clinical data, phlebography, ultrasound of the lower extremities, and X-rays are performed.

Clippel-Trenone syndrome: treatment of pathology

The main treatment measure is surgery. The amount of intervention is determined depending on the degree of vascular injury. To expand the lumen of the vein, stenting is performed. With a large area of damage, the vessel is shunted - replacing its site with an implant.

To combat varicose veins, sclerotherapy is prescribed, laser coagulation of veins. Patients suffering from this disease should wear compression lingerie.

Prevention of the Klippel-Trenone syndrome

The syndrome of Klippel-Trenone in infants is rarely diagnosed. More often it is revealed in the first months or years of life. To prevent the development of ailment, you must protect yourself from harmful effects during pregnancy. Another preventive measure is the genetic examination of the fetus in the presence of cases of morbidity in the family.