As you know, congenital pathologies are transmitted at the genetic level from parents or arise due to a violation of embryogenesis. Anomalies can form from any tissues or organs. Most often, they are detected immediately after the birth of the baby, but sometimes appear much later. An example of a congenital anomaly is Klippel-Weber-Trenone syndrome. This disease belongs to the pathologies of the vascular system, it affects mainly the veins of the lower extremities.
Unlike many other congenital anomalies, Klippel-Weber-Trenone syndrome can have a favorable prognosis for life. It is achieved with the help of timely surgical treatment of the disease.
Pathology: Klippel-Trenone-Weber syndrome - what is it?
This disease has been known since the beginning of the 20th century, when it was first described by two scientists - Trenone and Klippel. Later, Dr. Weber supplemented the already available information about this pathology. It is known that the disease has another name - osteohypertrophic venous nevus.
Klippel-Weber-Trenone syndrome occurs mainly among the male population. At the moment, information about the main cause of the development of the disease and its epidemiology is not enough. The main symptoms of the pathology are extensive “birthmarks” (nevi) on the legs, various diameters of the lower extremities, varicose veins. Despite the early development of clinical signs and the severity of the lesion, in some cases the syndrome is treatable. This advantage has been achieved thanks to the advent of new technologies in the field of vascular surgery.
Causes of the problem
Since the disease was described relatively recently (about 100 years ago), at the moment there is no reliable information about its etiology. Nevertheless, there are several theories according to which Klippel-Trenone-Weber syndrome develops. The causes of pathology are associated with hereditary burden. It is understood that the main etiological factor is gene mutation. According to another theory, the cause of the disease lies in the violation of embryogenesis in early pregnancy. Under the influence of adverse environmental factors (chemical poisoning, psycho-emotional stress, radiation exposure), aplasia of the venous system occurs. Its underdevelopment is also associated with infectious agents. According to this theory, the cause of the pathology is bacteria or viruses that enter the mother during pregnancy.
The clinical picture of the disease
The first manifestations of Klippel-Trenone-Weber syndrome are already noticeable in the neonatal period. In rare cases, they occur later - in childhood. The following symptoms are classic symptoms of the disease:
- Angiomas are vascular spots. Most often, they are on one leg and cover a large area. The color of angiomas can be different: from light to dark purple. Under the influence of physical factors (friction, shock), the skin in the area of “birthmarks” is easily damaged, bleeding appears.
- Varicose veins of the superficial veins of the leg. The clinical manifestations of this symptom are tortuosity, thickening, enlargement and tenderness of the vessels of the lower extremity.
- Hypertrophy of the affected leg. Due to the defeat of deep veins and their growth, the limb increases in diameter. In some cases, the skeletal system is also included in the process. Then the affected leg may be longer than a healthy limb.
Sometimes one of the signs of the disease is absent or does not appear externally (for example, varicose veins of the superficial veins). In some cases, the pathology progresses rapidly, and the lesion passes from the limbs to the trunk and upper shoulder girdle.
Diagnostics
Clippel-Weber-Trenone syndrome can be suspected by extensive angiomas. This symptom appears first. Later, varicose disease and limb hypertrophy join. A characteristic sign of this pathology is unilateral damage. If a disease is suspected, laboratory and instrumental diagnostics are performed. Ultrasound and lower limb dopplerography are performed first. A feature of this syndrome is the lack of correlation between venous pressure and cardiac activity. This symptom is reflected by a straight line during venography.
Klippel-Trenone-Weber syndrome: treatment of pathology
The elimination of the disease depends on the degree of deep vein damage. With significant narrowing, shunting is performed. If the main vein is affected in a large area, then transplantation of the vessel with artificial material is carried out. Sclerotherapy (Trombovar, Fibro-Vane) and compression underwear are used as an additional treatment. A constant intake of anticoagulants (medication "Warfarin") is also required. In some cases, the operation on the vessels can be performed using a laser.