Diseases

Osler's disease

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Osler's disease is a rare hereditary disease in which abnormally dilated blood vessels develop in various parts of the body. These vessels are very easily injured, which is why it comes to frequent bleeding, for example in the form of nosebleeds. A cure is not possible so far. However, different symptomatic treatment options allow most people to live a largely normal life. Here you can read all important information about Osler's disease.

ICD codes for this disease: ICD codes are internationally valid medical diagnosis codes. They are found e.g. in medical reports or on incapacity certificates. I78 Article OverviewMorbus Osler

  • description
  • symptoms
  • Causes and risk factors
  • Examinations and diagnosis
  • treatment
  • Disease course and prognosis

Osler's disease: description

The disease Osler syndrome (Rendu-Osler-Weber syndrome) was named after its discoverers and is also known as hereditary hemorrhagic telangiectasia (HHT) designated. This term already conceals the essential features of this disease:

"Hereditary" means that it is an inherited disease. The term "Hemorrhagic" derives from the Greek of "haima" (blood) and "rhegnynai" (flow) and describes the bleeding that occurs in Osler's disease, such as nosebleeds, hemoptysis or gastrointestinal bleeding. The word "Telangiectasia" also comes from the Greek: "telos" (far), "angeion" (vessel) and "ektasis" (extension). This describes the red point-like skin manifestations that are visible especially in the face. These are pathological enlargements of the smallest blood vessels (capillaries).

There is no reliable data on the incidence of Osler's disease. The Deutsches Ärzteblatt describes that 10,000 people are affected by this disease. This is a total of a rare disease. In France, Denmark and Japan, however, Osler's disease is more common.

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Osler's disease: symptoms

The signs of an Osler's disease can be very different. The first symptom is usually strong and regularly recurring nosebleeds, It usually occurs before the age of 20. Only later do the typical appear point-shaped vascular dilatationn (telangiectasia) on the face, fingers and other parts of the body.

In addition, Osler's disease affects the liver in 80 percent of patients, the gastrointestinal tract in 44 percent, the lungs in 33 percent, and the brain in up to 15 percent. Mostly develop in the process Short circuits between arteries and veins, As a result, the blood from the arteries (high pressure) flows into the veins (low pressure), thus filling the veins excessively with blood. The veins are overloaded by the increased blood flow and there is a build-up of blood in the veins. Depending on the organ involved, this venous congestion can have different consequences.

nosebleeds

Nasal bleeding is the typical symptom of Osler's disease: in the course of the disease, up to 90 percent of patients experience spontaneous, severe and often recurring nosebleeds. There is no special trigger like an accident or fall. Most of the nose bleeding is one of the first symptoms of the disease, which usually occurs up to the age of 20 years. In rare cases it also manifests itself afterwards.

telangiectasia

By this is meant extended capillaries. In Osler's disease, telangiectasias appear as small, reddish, punctate patches on the skin. As Osler's disease is a systemic disease, it can, in principle, occur anywhere on the body. However, especially common locations are the facial area (cheeks, lips, tongue, nose or ears) and the fingers (especially at the fingertips).

liver

The liver is also affected in about 80 percent of Osler patients. There are short circuits between arteries and veins (shunts). In most cases, these vascular changes do not lead to symptoms. Rarely, however, can cause heart failure, high blood pressure of the hepatic vein or bile. The blood may back up into the lungs (shortness of breath), liver (with symptoms of hepatic vein hypertension) or the legs (swollen legs, edema).

High pressure in the hepatic vein in Osler's disease can lead to blood vessel bypasses and bleeding (vomiting blood). In addition, ascites may form and affect the detoxification function of the liver. It is also possible that the coagulation factors formed in the liver are produced only to a limited extent, as a result of which bleeding can occur more easily. A gall bladder is noticed by the fact that skin and eye white turn yellow. The skin itches often uncomfortable. The stool may be discolored and the urine may appear brownish.

Gastrointestinal tract

Also in the gastrointestinal tract may be located in Osler's telangiectasia. They usually develop with increasing age and can cause gastrointestinal bleeding. As a result, a blackish discoloration (tarry stool) or blood occupation of the stool is possible. Repeated heavy bleeding can cause anemia (anemia).

lung

Short circuits between the arterial and venous blood vessels in the lungs are usually larger and are referred to as pulmonary arteriovenous malformations (PAVM). They occur in approximately one third of patients with Osler's disease and can lead to coughing up blood.

In addition, there is an increased risk of so-called Osler disease paradoxical embolisms, As a rule, thromboses (blood clots) form in the veins. If they dissolve and are swept along in the blood stream as a so-called embolus, they usually pass through the right heart exclusively into the pulmonary vessels, where they can clog the pulmonary vessels (pulmonary embolism). The embolus, however, does not reach the left heart, and thus does not reach the arterial vessels. Organs that receive arterial blood from the left heart are therefore normally unaffected by such emboli.

Central nervesystem

Symptoms of the central nervous system usually develop in Osler's disease due to short circuit connections in the lungs. Trapped pulmonary vein material can lead to bacterial purulent buildup or stroke. However, in Osler's disease, short circuit connections between arteries and veins can also be present in the brain directly. They usually lead to headaches, seizures and bleeding.

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Osler's disease: causes and risk factors

Osler's disease is the result of a gene change that can be inherited independently of gender. This means that if a parent suffers from Osler's disease, there is a 50% chance that the child will also be genetically predisposed to Osler's disease. Not always, a gene carrier also has all disease symptoms (incomplete penetrance).

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Osler's disease: examinations and diagnosis

If a patient suffers from symptoms of Osler's disease, the doctor must check the so-called CuraŠłČao criteria. These are four typical criteria for Osler's disease. So that the diagnosis of Osler's disease can be made reliably meets at least three of these criteria be. If only two of the criteria are positive, this only suggests the suspicion of the disease, so further investigations are necessary. If only one criterion applies, there is most likely no Osler's disease.

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