Randu-Osler disease is the appearance of bleeding from small capillaries (arterioles or venules). It is characteristic that this process is not inflammatory in nature. Most often, the disease manifests itself in the form of vascular networks (or asterisks). But vascular damage occurs not only on the surface of the skin. Symptoms may also appear on the mucous membranes of other organs (bronchi, nose, mouth, bladder).
Randu-Osler Disease: Clinic
For the first time, this disease was described by a native of France - Louis Marie Randoux. The full picture of the disease was provided by the English specialist William Osler. The information was supplemented by 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. Both boys and girls suffer the same syndrome. The following genes are responsible for its development: the first is responsible for endoglin, controls the production of glycoprotein. The second belongs to the category of transforming growth factors. With their mutation, the vessels lose their elasticity, defects in their compounds, deviations from the norm in the structure of endothelial cells are observed. It is worth noting that Randu-Osler disease (disseminated hemangiomatosis) is a rather rare condition, and the nature of its origin is not always clear. The prevalence rates of the disease are as follows: 1 person per 5000 suffers from it.
The first symptoms of the development of the disease
As a rule, up to 6 years, the symptoms of the disease do not appear (despite the fact that Randu-Osler disease is inherited). Upon reaching a certain age (6-10 years), the first signs appear. On the skin or mucous membranes of other organs, the appearance of angiomas (i.e., vascular tumors) can be noticed. As a result of defects in the capillaries and blood vessels, red (or with a shade of blue) spots can form, which bleed. Randu-Osler-Weber disease is characterized by low blood coagulation. As a result of this, bleeding is possible (even as a result of microtrauma). Sometimes the only symptom that can indicate the presence of a disease is nosebleeds. Girls can also have heavy periods. Due to frequent bleeding, anemia develops, the hemoglobin level drops.
Stages of the disease
Randu-Osler-Weber disease has several stages. Each of them is characterized by certain symptoms. At an early stage, vascular lesions are small, look like small spots. An intermediate degree is characterized by the presence of spider veins, spiders. A knotted shape is the appearance of red (round or oval) nodules that protrude several millimeters above the surface. The diameter they have is from 5 to 7 millimeters. When pressed, these formations become pale (all types). Then they are filled with blood.
Classification of forms of the disease
As already mentioned, the Randu-Osler disease can be hereditary (a photo of the manifestations of the disease can be seen in this article), which is transmitted from parents. If both father and mother suffer from this syndrome, then the child’s disease will occur in a more severe form. There are also sporadic cases that arise due to mutations. Depending on the location of the lesion, specialists distinguish the nasal type (nosebleeds ), pharyngeal, cutaneous (certain areas of the skin may bleed). The visceral form is characterized by bleeding from internal organs. A mixed type can also be observed, in which both the skin and internal organs are affected.
Randu-Osler disease (ICD-10 code): risk factors for diagnosis
First of all, the main danger factor is heredity. Also, the disease can provoke medications that a pregnant woman takes in the first three months. Infectious diseases transferred during this period are also unsafe. The following points can provoke bleeding: friction of clothes on damaged areas, high blood pressure, unbalanced nutrition. The lack of essential trace elements in food that can strengthen blood vessels is one of the reasons for their weakness. This is especially true for supporters of vegetarianism.
Diagnostic Methods
The formulation of the clinical diagnosis of Randu-Osler disease is based on examination of the physical condition of the patient. As a rule, telangiectasias can be seen on the face, head, and mucous membranes. These are red formations that protrude above the surface of the skin. Such defects can also be located on internal organs. A general blood test is needed, which may indicate the presence of 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 we can say that bleeding of the kidneys, urinary tract develops. The specialist conducts a series of tests. A pinch test makes it possible to judge subcutaneous hemorrhage. For the test, the skin under the collarbone is squeezed for a while. Similar information is provided by the test of the tourniquet (it is superimposed on the forearm for several minutes). If there is a suspicion of Randu-Osler disease, the diagnosis does not do without tests for the rate of blood coagulation, the duration of bleeding (a finger breaks). Body cavities are examined with an endoscope. If external symptoms are absent, then computed tomography is performed. This method allows you to see any violations in the internal organs.
Disease treatment
Rendez-Osler disease treatment involves the following. The first is conservative therapy. Its essence is the use of inhibitors to irrigate the surface that bleeds. These medicines prevent the resorption of the blood clot and thus stop the bleeding. As practice shows, other drugs are ineffective. Surgery is often required. During its conduct, the damaged part of the vessel is removed. A prosthesis can replace it (if necessary). With nosebleeds, cryocoagulation gives a good result. Using liquid nitrogen, a portion of the vessel is frozen. Less effective is the use of a laser for cauterization. In some cases, hormone therapy is needed.
Blood transfusion (hemocomponent therapy)
In cases where Randu-Osler disease causes large blood loss, the use of donated blood is necessary. Deficiency of the components responsible for coagulation makes up for transfusion of plasma (freshly frozen). Such therapy is used in conditions that threaten a person’s 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 occurs (loss of consciousness due to a lack of oxygen for the brain), red blood cells are transfused from the blood of the donor. Often they are freed from surface proteins.
Possible complications of the disease
Randu-Osler 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. At the same time, a person is unconscious and does not react to external stimuli in any way. The onset of paralysis is also possible. This disease can lead to blindness (with bleeding in the retina). The condition of internal organs is significantly deteriorating. A dangerous side effect of the disease can be cerebral hemorrhage. However, the timely detected disease and competent therapy can save the patient's health and life.
Preventive actions
Primary preventive measures are needed before a problem is detected. Families with one or more members diagnosed with Randu-Osler disease should consult with a geneticist. There are times when a recommendation is given to refrain from conceiving a child. It is also worth taking care of the body's defenses. Regular walks on the street, hardening the body will have a good effect. Proper nutrition with a balanced diet is also necessary.
Secondary prevention consists of regular examinations by specialists. Its purpose is the early detection of the disease. If the syndrome is already diagnosed, then treatment should be timely and complete. If surgical intervention is necessary, the patient must consult with a hematologist without fail. This will protect the person from complications during surgery (major 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 transfusion of donor blood components only in cases of emergency.