Rundu-Osler's disease is the appearance of bleeding from small capillaries (arterioles or venules). Characteristically, this process is not inflammatory. Most often, the disease manifests itself in the form of vascular nets (or asterisks). But the defeat of the vessels occurs not only on the surface of the skin. Also, the symptoms can occur on the mucous membranes of other organs (bronchi, nose, mouth, bladder).
Rundu-Osler disease: a clinic
For the first time this disease was described by a native of France - Louis Marie Randu. A full picture of the disease was provided by the English expert William Osler. The information was supplemented also by the observations of Frederick Weber. It is established that this disease is inherited. It is enough for the child to inherit the defective gene of the parent. This syndrome affects both boys and girls alike. The following genes are responsible for its development: the first is responsible for endoglin, controls the production of the glycoprotein. The second belongs to the category of transforming growth factors. At their mutation, the vessels lose their elasticity, their defects are observed, deviations from the norm in the structure of endothelial cells. It should be noted that Randyu-Osler's disease (disseminated hemangiomatosis) is a rare condition, and the nature of its origin is not always clear. The prevalence of the disease is as follows: it suffers 1 person per 5000.
The first symptoms of the disease
As a rule, up to 6 years of symptoms of the disease is not manifested (despite the fact that Randyu-Osler's disease is inherited). After reaching a certain age (6-10 years), the first signs appear. On the skin or mucous of other organs, you can notice the appearance of angiomas (i.e., tumors of blood vessels). As a result of defects in capillaries and blood vessels, red (or blue-tinged) spots can form which bleed. Rundu-Osler-Weber disease is characterized by low blood coagulation. As a result, bleeding may occur (even as a consequence of microtrauma). Sometimes the only symptom that can indicate the presence of the disease are nasal bleeding. Also, girls can have profuse menstruation. Because of frequent bleeding, anemia develops, the level of hemoglobin decreases.
Stages of the disease
Rundu-Osler-Weber disease has several stages. For each of them, there are certain symptoms. At an early stage of vascular lesions small, have the appearance of small spots. Intermediate degree is characterized by the presence of spider veins, spiders. Nodular form - the appearance of red (round or oval) nodules, which protrude over the surface a few millimeters. They have a diameter of 5 to 7 millimeters. With pressure, these data become pale (all types). Then they fill with blood.
Classification of the forms of the disease
As already mentioned, Rundu-Osler's disease can be hereditary (photos of manifestations of the disease can be seen in this article), which is transmitted from parents. If such a syndrome affects both the father and mother, the child will have the disease in a more severe form. There are also sporadic cases that arise from mutations. Depending on the site of the lesion, specialists distinguish the nasal type (nosebleeds), pharyngeal, cutaneous (certain areas of the skin can bleed). The visceral form is characterized by bleeding from internal organs. There may also be a mixed type, in which both the skin and internal organs are affected.
Rundu-Osler disease (ICD-10 cipher): risk factors for diagnosis
First of all, heredity is the main factor of danger. Also, the disease can provoke the medications that the pregnant woman takes in the first three months. Insecure and infectious diseases, transferred in this period. To provoke bleeding, the following points can occur: rubbing clothes against damaged areas, high pressure, unbalanced nutrition. The lack of essential micronutrients in the food, which can strengthen the vessels, is one of the reasons for their weakness. This is especially true of vegetarians.
Methods of diagnosis
The formulation of the clinical diagnosis for Rundu-Osler disease is based on examination of the patient's physical condition. As a rule, on the face, head, mucous, you can see telangiectasia. It is a formation of red color, which protrude above the surface of the skin. Such defects can be located on internal organs. A general blood test is required, which may indicate anemia. Biochemical analysis makes it possible to recognize concomitant infections and diseases. Urinalysis is also performed. If red blood cells are found in it, then it can be said that the bleeding of the kidneys, urinary tracts develops. A specialist conducts a series of tests. A sample of tweezers makes it possible to judge subcutaneous hemorrhages. For the test, the skin under the collar bone is squeezed for a while. Similar information is given by the test of the tourniquet (it is superimposed on the forearm for several minutes). If there is a suspicion of Rundu-Osler's disease, the diagnosis is not complete without tests for the rate of blood clotting, the duration of bleeding (the finger breaks through). The body cavities are examined using an endoscope. If there are no external symptoms, then a CT scan is performed. This method allows you to see any violations in internal organs.
Treatment of the disease
Rundu-Osler's disease treatment involves the following. First, it is conservative therapy. The essence of it is the use of inhibitors for irrigation of the surface that bleeds. These drugs interfere with the resolution of the blood clot and thus stop bleeding. As practice shows, other drugs are ineffective. Often, surgery is required. During its carrying out the damaged part of the vessel is removed. It can be replaced by a denture (if necessary). With nasal bleeding, a good result is given by cryocoagulation. Using liquid nitrogen, the portion of the vessel is frozen. Less effective is the use of a laser for cauterization. In some cases, hormone therapy is necessary.
Blood transfusion (hemocomponent therapy)
In cases where Rundu-Osler's disease causes large blood loss, it is necessary to use donor blood. Deficiency of components responsible for clotting, replenishes plasma transfusion (freshly frozen). Such therapy is used in conditions that threaten human life. Also in such cases, transfusion of donor platelets may be necessary. In cases where the patient has a severe form of anemia (very low hemoglobin level) or anemic coma (loss of consciousness due to lack of oxygen for the brain), the red blood cells are transfused from the blood of the donor. Often they are released from proteins that are on the surface.
Possible complications of the disease
Rundu-Osler's disease, the pathogenesis of its development and the lack of effective treatment can lead to a number of negative aspects. First, anemia develops. Significant blood loss can lead to anemic coma. The person is unconscious and does not react to external stimuli in any way. Paralysis is also possible. This disease can lead to blindness (with bleeding in the retina). The condition of the internal organs is significantly deteriorating. A dangerous side effect of the disease may be a cerebral hemorrhage. However, timely detection of the disease and competent therapy can save health and life to the patient.
Primary prevention measures are needed before the problem is identified. Families in which one or more members are diagnosed with Rundu-Osler disease should consult with a geneticist. There are cases when a recommendation is given to refrain from conceiving a child. It is also worth taking care of the defenses of the body. Good action will have regular walks on the street, tempering the body. Proper nutrition with a balanced diet is also necessary.
Secondary prevention consists in regular examinations of specialists. Its purpose is early detection of the disease. If the syndrome is already diagnosed, then treatment should be timely and full. If a surgical intervention is necessary, the patient must necessarily consult a hematologist. This will make it possible to protect a person from complications during surgery (large bleeding). Each patient and his relatives should receive information on how to provide first aid for bleeding (both internal and external). It is recommended that the donor blood components be transfused only in cases of extreme necessity.