Rundu-Osler disease
Rundu-Osler disease is the most common hereditary hemorrhagic affection of blood vessels with focal thinning of their walls and expansion of the lumen of microvessels, inadequate local clotting of blood as a result of underdevelopment of the inner wall of the vessel wall. This disease is transmitted by an autosomal dominant type of inheritance. Bleeding is associated with both low resistance and slight vulnerability of the vascular wall in the areas of their expansion, and with very weak stimulation in these areas of blood coagulation.
Teleangiectasia( expansion of blood vessels) in early childhood is not visible and begin to form only to 6-10 years. Most often they appear on the wings of the nose, the mucous membrane of the lips, gums, tongue, cheeks, skin of the scalp and ear lobes. With age, the number and prevalence of sites of vasodilation increase, bleeding from them occurs more often and becomes heavier.
In the classic description of B. Osler, three types of telangiectasias are distinguished: early( areas of vasodilatation in the form of small irregular spot shapes);Intermediate( areas of expansion in the form of vascular spiders);knotty type( areas of enlargement of vessels in the form of bright red round or oval nodules with a diameter of 5-7 mm, protruding above the surface of the skin or mucous membrane by 1-3 cm).In individuals older than 25 years, there are often extensions of blood vessels 2 or all 3 types. All of them differ from other formations in that they pale under pressure and fill with blood after the pressure ceases.
Most people suffering from this disease, the areas of expansion of the vessels first appear on the lips, wings of the nose, on the cheeks, over the eyebrows, on the tongue, gums, mucous membrane of the nose. They can then be found on all areas of the skin, including the scalp and fingertips. Sometimes they are clearly visible under the nails, can form and on the mucous membranes of throat, larynx, bronchi, throughout the gastrointestinal tract, in the renal pelvis and in the urinary tract, in the vagina. In most cases, the bleeding phenomena begin with nasal bleeding, very prone to recurrence. A single nasal passage can bleed for a long time, and sometimes bleedings of different localizations alternate.
The intensity and duration of bleeding varies greatly - from relatively uninvolved and not very long to extremely stubborn, lasting almost continuously for many days and weeks, leading eventually to anemia.
Similar persistent and dangerous hemorrhages are observed from the sites of the expansion of the blood vessels of another localization: pulmonary-bronchial, gastrointestinal, etc. The disease in such cases is revealed when carrying out endoscopic research methods( FGDs, etc.).In some cases, hemorrhages to the brain and internal organs can develop.
Congenital inferiority of the vessels of the internal organs is manifested by saccular protrusions in their wall( aneurysms), which are most often located in the lungs, more rarely in the liver, kidneys and spleen. When the lungs are damaged, the person has shortness of breath, the facial skin acquires a cyanotic-red color. These aneurysms are difficult to recognize, often treated as other diseases( erythremia, tuberculosis, lung tumors, congenital heart defects).Long-term existence of such changes in the blood vessels of internal organs leads to severe and irreversible changes in them - the progression of pulmonary heart failure, chronic renal failure, etc. However, among the causes of death, the first place is occupied by persistent bleeding leading to severe anemia and heart failure.
Treatment of .The appearance and intensification of bleeding, especially nasal bleeding, is promoted by rhinitis and other inflammatory diseases of the mucous membranes, on which there are telangiectasias, their mechanical injuries( even very light ones), stressful situations, mental and physical overstrain, alcohol and spicy food, especially with vinegar,which disrupts platelet aggregation, acetylsalicylic acid and other disaggregants, insufficient sleep, night work. All this must be taken into account when raising children and adolescents with telangiectasia, choosing sports activities, occupations, employment, etc.
Local effects are used to stop bleeding. Tight tampons of the nose are ineffective, as they injure the mucous membrane, promote more abundant and dangerous subsequent bleeding that occurs immediately or soon after removal of the tampon. It is more expedient and less traumatic to squeeze the nasal mucosa with a finger from a rubber glove connected through a catheter. The finger is smeared with fat( Vaseline), injected into the bleeding nasal passage with a catheter, and then inflated until the bleeding ceases. Local irrigation of bleeding mucous membrane with hemostatic drugs, hydrogen peroxide is not reliable enough, and at best only stop bleeding for a while. The best effect is provided by irrigation of the nasal cavity( using a rubber pear or syringe) cooled with a 5-8% solution of e-aminocaproic acid, which must always be in the patient in the refrigerator. Moxibustion of the nasal mucosa does not prevent repeated bleeding, and in some cases contribute to their rapidity. A temporary effect is provided by the ligation of the nasal arteries. These interventions are resorted only to vital indications for massive bleeding. From local impacts, freezing is more effective.
The primary stop of bleeding is provided by the introduction into the nasal cavity of a haemostatic tampon or a compressed foam sponge soaked in liquid nitrogen. At the second stage, the portion of the dilated vessel is destroyed by a cryoapplicator with a vapor-liquid nitrogen circulation( the temperature of the tip is -196 ° C).The time of each freezing is 30-90 s. In the third stage, 4-8 sessions( 1-2-day intervals) of one-second sprays of liquid nitrogen in the nasal cavity are performed, which eliminates the dryness of the mucosa and the formation of crusts on it. The duration of the effect of such treatment ranges from several months to 1 year or more.
Surgical treatment is resorted to with frequent and very abundant gastrointestinal, bronchopulmonary, renal and other hemorrhages. However, in connection with the formation of new areas of vasodilation after a while, these bleedings can resume.
The general therapeutic effects of Rundu-Osler disease are of little use. Hemorrhagic syndrome is sometimes mitigated by the appointment of female( estrogen) or male( testosterone) sex hormones.
Aneurysms should be surgically removed as early as possible, before irreversible changes in internal organs develop.