Many diseases are formed in the infancy. Therefore, it is not always possible to influence their development. Indeed, most of these pathologies are diagnosed only after the birth of a child. And some are much later. Klippel-Trenone disease should be attributed to one of the genetic ailments. The syndrome was discovered in the early 20th century. This is associated with the emergence of a science such as genetics. Often, male patients are affected by this disease. However, it is found among the female population. Pathology refers to congenital vascular disorders.
Description of Klippel-Trenone syndrome
Klippel-Trenone syndrome is considered a rare genetic defect. It is almost impossible to predict the development of this pathology, since the defect is rare and it is not diagnosed during pregnancy. However, in some cases, Klippel-Trenone disease can be suspected. The syndrome refers to hereditary ailments. Therefore, pregnant women should be subjected to genetic analysis, in whose family there have been cases of the development of this pathology. Another name for the disease is hypertrophic hemangiectasia. The clinical picture of Klippel-Trenone syndrome includes 3 main symptoms:
- Varicose veins of the lower extremities.
- The appearance of age spots on the skin.
- Change in the length and width of the affected limb.
In some cases, skeletal lesions and soft tissue hypertrophy are not observed. Often, the pathology is characterized by a progressive course. The prognosis depends on the severity of vascular changes. Despite the fact that the cause of the disease cannot be eliminated, therapeutic measures help to improve the patient's quality of life. People suffering from this pathology are assigned disability.
Causes of Klippel-Trenone Syndrome
What is the cause of Klippel-Trenone disease? The syndrome develops due to a genetic defect. This anomaly is transmitted according to an autosomal dominant type of inheritance. This means that in the presence of a similar genetic defect in one of the parents, there is a 50% chance of developing the syndrome in the child. 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 laying of fetal tissues. This can be affected by damaging effects. These include factors such as:
- Psychological discomfort in the first weeks of pregnancy.
- Infectious diseases. Of great importance are chronic viral lesions of the body.
- The use of drugs with teratogenic properties.
- The use of narcotic substances shortly before conception and during pregnancy.
- Smoking and alcoholism.
- Air pollution by toxic substances, radiation.
All of these factors can cause restructuring in the body of a woman and an unborn child. They are especially dangerous in the initial stages of pregnancy. Indeed, during this period various anomalies can form.
The mechanism of the development of the disease
Why do vascular changes occur in Klippel-Trenone disease? The syndrome is manifested by signs of venous disorders. The mechanism for the development of pathology is to block the outflow of blood from the lower extremities. This is due to the fact that the lumen of the veins narrows, there is compression of the vessel by the arterial branch, hypertrophied muscles, and residual embryonic tissue. Hypertension occurs due to impaired blood flow. The veins gradually thin out, undergo damage. In addition, the functioning of the valve apparatus is disrupted. Due to blood stasis, the limb begins to hypertrophy. Due to stagnation, trophic function suffers . Therefore, tissues undergo ischemia. A prolonged violation of the blood supply leads to sclerosis. Soft tissues hypertrophy, plethora and edema occur. In some cases, the bones undergo changes. As a result, the affected limb can not only increase in width, but also lengthen.
Klippel-Trenone syndrome: symptoms of the disease
The manifestations of 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 detected in adolescence or adulthood. So, the following disorders are referred to clinical manifestations:
- Dilation of superficial veins of the lower extremities. It is manifested by pathological tortuosity and soreness along the vessel visible to the naked eye. Most often, dilated veins are located on the outer surface of the leg.
- Increased limb size. Often accompanied by inflammation. Due to blood stasis, a sore leg can be very different from a healthy limb. Often it is hyperemic, the skin is thickened.
- Limb lengthening. Both legs and arms can hypertrophy.
- The appearance of pigmented nevus on the skin. In another way, these formations are called "wine stains."
In addition, with the progression of the disease, trophic changes appear. In the affected areas, ulcerative defects can occur that do not heal for a long time. Among other abnormalities developing with this pathology, polydactyly, the presence of fingers or toes fused together are noted.
How is Klippel-Trenone disease diagnosed?
Diagnosis of Klippel-Trenone syndrome is often based on clinical manifestations. Symptoms of the disease appear gradually. The first sign may be the appearance of "wine stains" or the expansion of veins. If these symptoms are combined with limb hypertrophy, a diagnosis is made: Klippel-Trenone syndrome. Photos of people suffering from this disease are similar. They can be seen in the literature on rare genetic pathologies. Therefore, most often the diagnosis is not difficult.
In addition to clinical data, phlebography, ultrasound scan of the lower extremities, and x-rays are performed .
Klippel-Trenone syndrome: treatment of pathology
The main therapeutic measure is surgery. The amount of intervention is determined depending on the degree of vascular damage. To expand the lumen of the vein, stenting is performed. With a large area of damage, a vessel is bypassed - its site is replaced with an implant.
To combat varicose veins, scleroteropia, laser coagulation of veins is prescribed. Patients suffering from this disease should wear compression underwear.
Clippel-Trenone Syndrome Prevention
Klippel-Trenone syndrome in newborns is rarely diagnosed. More often it is detected in the first months or years of life. To prevent the development of the disease, you must protect yourself from the harmful effects during pregnancy. Another preventive measure is the genetic study of the fetus in the presence of cases of morbidity in the family.