Disease Rendu-Osler-Weber – a pathological process is considered to be relatively common, its etiology is the deficiency of certain walls of capillary vessels. The pathological process is called hereditary hemorrhagic telangiectasia.
The disease originally described between the 19 and 20 centuries scientists Rendu, Osler and Weber Parks. Syndrome Rendu-Osler-Weber in equal quantities involves in the process, both male female, but the degree of intensity of different symptoms in different patients. the prevalence is quite high – about 1 to 5000.
The etiology and pathogenetic mechanism until there is a subject for scientific debate and reasoning. Latest information genetics is described as a violation of the structure of the transmembrane protein of the endothelial cells – endoglin either kinase-1. But this does not explain only by hand dysplasia, the symptoms of which is the lack of certain vessels muscle and elastic layers.
This leads to the development of only one shell of the vessel wall – endothelium, which is surrounded by a loose connective tissue layer. Because cardio weselna system is a derivative of the mesenchyme, this allows certain researchers to suggest that the pathology acts as a kind of embryonic mesenchymal dysplastic process. Lean muscle and elastic membranes of the vascular network consists of microscopic aneurysm, easily damaged and lead to hemorrhage.
Their durability is also due to the presence of the hemostatic process spazmirovannah blood vessels around the affected area. In the absence of myoblock reflex spasserovannye at the site of injury becomes impossible, which greatly complicates the development of a thrombotic clot and stop hemorrhage. Long defects of certain neuroreceptors endothelium also prevents the process of removerthe. Confirmation of indirect connection with the hemostatic system supports normal levels of all coagulation factors in patients. Only in severe variants of the pathology is sometimes observed thrombocytopenia and the lack of other factors, but they are secondary in nature and are caused by koagulopatiei consumption.
The symptomatic manifestation
The initial pathology visualized for 5-10 years, it is telangiectasia on the con-cover the nose, face, auricular surface of the lips, oral mucosa.
Define three options weselnych disorders, reflecting bazisnye stages of development:
- Early. Telangiectasia presented with a faint reddish dots and spots.
- Intermediate. Characterized by the formation on the dermis mesh, “spiders” and stars.
- Knotty. Submitted by knots the size of 5-8 mm, slightly protruding above the dermal surface or mucous membrane. The speed of transformation weselnych disorders, their number and age will determine the severity.
In addition to telangiectasia over formed hemorrhagic disorders – initially appear unreasonable and persistent nasal hemorrhage. To determine their source if endocrinologie extremely difficult, the use of haemostatic sponges is often not stops bleeding, they increase up to heavy bleeding. In the literature there are variations of death due to bleeding from the nose. Typically, when a hospital patient is prescribed a consult with a hematologist, but coagulopathies symptoms in this case is not defined. In the case of prolonged and profuse hemorrhages are connected dizziness, fainting, pallor and other signs.
In more complex variants patients sometimes have gastric manifestations (melena, vomit coffee grounds, weakness) and pulmonary hemorrhage. In some cases, the sick complain of shortness of breath, weakness, cyanosis, which indicates the presence of right-left shunting of geomancy in the lungs due to fistulas between arteries and veins. Telangiectasia develop as the dermis, and in cerebral and spinal tissue. This leads to epileptic seizures, pedroncelli the hemorrhage, paraplegia, and formation of cerebral abscess. Part of the family occur mainly brain disorders on the background of moderate symptoms on the skin and epistaxis.
Specific treatment of the pathology does not exist, primarily assigned to supporting the event. Nasal hemorrhage is stopped by laser ablation, but this does not prevent its recurrence. Short-term hemostasis can ensure the irrigation of the nasal cavity cold solution of aminocaproic acid. When pulmonary bleeding and hemorrhage in the digestive tract resorting to endoscopic techniques, up to surgical intervention. Last shown in the case of complicated options – right-left shunting and padronale hemorrhage.
As a maintenance treatment are the vitamins and iron supplements in case of anemia. In severe variants used a transfusion of blood or erythrocyte mass.
The forecast is mostly uncertain, since it depends on the degree of intensity weselnych disorders. To determine the forecast it is necessary to assess family history – clinical disease in relatives are rather similar. Much worse forecast when the prevalence of brain pathology clinic, which often leads to epilepsy, strokes, cerebral abscesses.
In the case of even a light nasal bleeding, patients should immediately come to the clinic, because to stop it in the house often not possible.