Rando-Osler Disease

What is the Rando-Osler Disease?

Rando-Osler disease is the most common hereditary hemorrhagic vasopathy with focal thinning of the walls and expansion of the microvascular lumen, with inadequate local hemostasis. This pathology is inherited by an autosomal dominant type with different incidence of the pathological gene.

Causes of Rando-Osler Disease

The cause of the disease is still unknown. With regard to the mechanism of development, according to modern concepts, Rando-Osler disease is an example of vascular pathology (with a disorder of the anatomical integrity of blood vessels) with a congenital tendency to insufficient development of blood vessels (vascular dysplasia). This anomaly is characterized by inferiority of the mesenchyme. Anatomical substrate of the disease is the thinning of the vascular wall with no elastic and muscular membranes. Therefore, the wall is a single endothelium and is surrounded by loose connective tissue. As a result, arteriovenous aneurysms appear, which, due to the mild vulnerability of the vascular walls, cause bleeding.

Most often, the disease is morphologically caused by the presence of multiple telangiectasias localized on the skin, mucous membrane of the tongue, nose, bronchi, and gastrointestinal tract. In many cases, the disease Rando-Osler is hereditary, transmitted by the dominant type. There are, however, and sporadic cases of the disease.

Symptoms of Rando-Osler Disease

Although the inferiority of the mesenchymal base of microvessels is genetically determined, telangiectasias are not visible in early childhood and begin to form only by 6-10 years old, most often 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 angiectasia increase, bleeding from them is more common and sometimes more severe.

In the classical description of V. Osler, three types of telangiectasias are distinguished:

  1. early – telangiectasia in the form of small irregular specks;
  2. intermediate – in the form of vascular spiders;
  3. nodular type – in the form of bright red round or oval nodules with a diameter of 5-7 mm, protruding 1-3 cm above the surface of the skin or mucosa.

Patients older than 25 years often have 2 or all 3 types of angiectasia. They all differ from other formations in that they turn pale when pressed and fill with blood after the cessation of pressure.

In most patients, telangiectasia first appears on the lips, nose, cheeks, eyebrows, tongue, gums, nasal mucosa (rhinoscopy poorly detected even with bleeding). They can then be found on any part of the skin, including the scalp and fingertips. Sometimes they are clearly visible under the nails, they can also form on the mucous membranes of the pharynx, larynx, bronchi, throughout the gastrointestinal tract, in the renal pelvis and in the urinary tract, in the vagina.

In most cases, hemorrhagic phenomena begin with nosebleeds, which are very prone to exacerbations. Only one nasal passage may bleed for a long time, and sometimes bleedings of different localizations alternate.

The intensity and duration of bleeding is very different – from relatively poor and not very long to extremely persistent, lasting almost continuously for many days and weeks, leading to extreme anemization of patients. There are cases when, despite qualified otorhinolaryngological care, patients died from nosebleeds.

The same persistent and dangerous bleeding is observed from telangiectasia of another location: pulmonary bronchial, gastrointestinal. The diagnosis in such cases is established by endoscopy. In some cases, hemorrhages in the brain and internal organs have also been recorded.

Congenital inferiority of the vessels of the internal organs is manifested by arteriovenous aneurysms, which are most often localized in the lungs. At the same time, the clinic includes the appearance of shortness of breath, polyglobulia, in patients marked cyanotic-red complexion, injection of scleral vessels. Less often, aneurysms appear in the liver, kidneys, and spleen. These arteriovenous aneurysms are difficult to recognize, often interpreted as other diseases (from erythremia to tuberculosis or lung tumors, congenital heart defects). Long-existing organ angiomatosis can lead to severe and irreversible changes in their progression of pulmonary heart disease, chronic renal failure. But among the causes of death, persistent bleeding with severe post-hemorrhagic anemia and heart failure prevail.

Diagnosis of Rando Disease – Osler

Diagnosis of the disease Randy – Osler is not difficult with visible telangiectasia. Endoscopic examinations contribute to the diagnosis.

Examination of the hemostasis system does not reveal significant disorders that can explain the bleeding. Only secondary reactive changes are possible due to blood loss (moderate hypercoagulation, thrombocytosis), anemia or, conversely, polyglobulia in arteriovenous shunt. However, with multiple telangiectasia, signs of intravascular blood coagulation (consumption coagulopathy) with thrombocytopenia may occur.

Treatment of Rando-Osler Disease

Rhinitis and other inflammatory diseases of the mucous membranes, on which telangiectasia, their mechanical injuries (even very light ones), stressful situations, mental and physical overstrain, alcohol and spicy foods, especially vinegar, contribute which disrupts platelet aggregation, taking acetylsalicylic acid and other antiplatelet agents (drugs that prevent blood clotting), lack of sleep, work at night. All this must be taken into account in the education of children and adolescents with telangiectasia, the choice of sports activities, professions, in employment, etc.

To stop bleeding use local effects. Tight tamponades of the nose are ineffective, injure the mucous membrane, contribute to more abundant and dangerous subsequent bleeding, occurring immediately or shortly after removal of the tampon. Local irrigation of the bleeding mucosa by thromboplastin, thrombin, lebetox (stipven, reptilase), hydrogen peroxide is not reliable enough and, at best, only stop or reduce the bleeding for a while. Irrigation of the nasal cavity (using a rubber pear or syringe) with a cooled 5-8% solution of aminocaproic acid, which the patient should always have in the refrigerator, gives the best effect.

Cauterization of the nasal mucosa (trichloroacetic and chromic acids, silver nitrate, diathermocoagulation) does not prevent recurrent bleeding, and in some cases contribute to their increased frequency. A temporary effect is provided by detachment of the nasal mucosa and ligation of the leading arteries – the maxillary, ethmoid. Nevertheless, such interventions have to be resorted to for health reasons for profuse bleeding. Out of local impacts, freezing is more effective.

The primary stop of bleeding is the introduction into the nasal cavity of a hemostatic tampon or compressed foam sponge soaked in liquid nitrogen. At the second stage, the destruction of telangiectasia is performed using a cryoapplicator with nitrogen circulation (tip temperature -196 ° С); time of each freezing -30–90 s. At the third stage, 4-8 sessions (with intervals of 1-2 days) of one-second spraying of liquid nitrogen in the nasal cavity are performed, which eliminates dryness of the mucous membrane and the formation of crusts on it. The duration of the effect of such treatment ranges from several months to 1 year or more.

It is necessary to resort to surgical treatment with frequent and very abundant gastrointestinal, broncho-pulmonary, renal and other bleeding. However, due to the formation of new angiectasia, after some time these bleeding can resume.

General therapeutic effects in case of Rando-Osler disease are of little value. Hemorrhagic syndrome is sometimes alleviated when prescribing estrogens or testosterone (hormonal drugs). Vikasol, calcium chloride, gelatin, hemophobin, dicine, aminocaproic acid do not stop and do not prevent bleeding.

Arteriovenous aneurysms should be surgically removed as early as possible before the development of irreversible circulatory and dystrophic changes in organs.

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