Osler’s disease

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.

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.

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).

Osler’s disease: examinations and diagnosis

If a patient suffers from symptoms of Osler’s disease, the doctor must check the so-called Curaḉao 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.

1) nosebleed

In Osler’s disease sufferers suffer from recurring nosebleeds, which occurs without a specific trigger (for example, a fall).

2) telangiectasias

The doctor checks for red punctiform vesicles on the lips, in the oral cavity, on the nose and on the fingers. It is characteristic of the telangiectasia in Osler’s disease that they disappear while pressing on it with a transparent object (e.g., glass spatula).

3) involvement of internal organs

In order to find out if internal organs such as the lungs, liver or gastrointestinal tract are affected as well, various examinations may be necessary: ​​If the doctor has an anemia due to obvious or unnoticed blood loss (for example due to intestinal bleeding) suspected by Osler’s disease, he takes blood. This will determine the level of hemoglobin (Hb) in the blood that is too low for anemia. To detect vascular dilations in the gastrointestinal tract, a gastric and colonoscopy are necessary. Vascular changes in the liver, the doctor can determine with an ultrasound (sonography). Changes in the lungs or brain can be visualized by computer (CT) or magnetic resonance imaging (MRI). In order to be able to recognize the vessels better, partial contrast medium is injected into a vein before the examination.

4) Osler’s disease in the relationship

If the disease is present in another first-degree-related family member (mother, father, sibling, children), this criterion is met.

Although the diagnosis of Osler’s disease is mainly based on the Curaḉao criteria, nowadays a genetic diagnosis can also be made from a blood sample. It is mainly carried out in people with a higher disease severity with pulmonary involvement, or when affected family members have a typical genetic change.

Osler’s disease: treatment

The two main problems with Osler’s disease are, on the one hand, the morbid dilated vessels from which it can bleed regularly. On the other hand, short-circuit connections (anastomoses) in internal organs can damage the organ function of the affected organs (especially the lungs and liver) and lead to severe bleeding. The treatment goals therefore include above all the sclerotherapy of potential sources of bleeding (especially the nose) and possibly the elimination of vascular short circuits (for example in the lungs) with surgical techniques. Various medications complement these measures.

Treatment of the nosebleed

Particularly distressing is the frequent nosebleeds for those affected. The following measures are used to treat Osler’s disease:

Nasal ointment and nasal tamponade

Nasal ointments can be used to prevent the frequent nose bleeding in Osler’s disease. They moisturize the nasal mucosa, thereby reducing the risk of it rupturing and bleeding. In acute, heavy bleeding, nasal tamponade may be necessary. A tamponade is a filler that is stuffed into the nostril and thus stops the bleeding. It can be made of different materials, but should be easily released from the nasal mucosa again. In the pharmacy tampons are developed especially for nosebleeds.

coagulation

If the nosebleed can not be adequately treated with ointments and tamponades, dilated blood vessels in the nose can be obliterated with a laser or electrical procedures. However, the nasal septum can be injured, which in turn can cause severe bleeding.

skin grafting

If the nasal wall is almost completely interspersed with the vascular dilations typical of Osler’s disease, skin grafting can be performed. First, the nasal mucosa is removed and then replaced with skin from the thigh or oral mucosa. With this procedure the nosebleed disappears relatively reliably. However, a dry nose with barking and crusts and also a smell loss can occur.

Operative nasal closure

In extremely severe complaints, the nose can be completely closed surgically. As a result, no nosebleeds more. However, sufferers have to breathe through their mouths all their lives. This procedure is mainly used in people with Osler’s disease, who need to take blood-thinning medications and can hardly quench an onset nosebleed.

drugs

If patients with Osler’s disease suffer from recurring nosebleeds, medical treatment may also be useful. For example, the drug tranexamic acid comes into consideration, which is taken orally in the form of tablets. Tranexamic acid prevents blood clots from dissolving again.

Treatment of liver symptoms

Liver involvement in Osler’s disease should be treated with medication alone for as long as possible in order to avoid surgical intervention due to the high risk of bleeding. For example, with beta-blockers an existing high blood pressure in the portal vein can be reduced. Further therapy options depend on the individual complaints. An endoscopic obstruction of the altered liver vessels or, in extreme cases, liver transplantation are associated with high risks and should therefore not occur in the case of Osler’s disease.

Treatment of gastrointestinal symptoms

If gastrointestinal telangiectasia results in anemia (anemia), iron should be replaced with a capsule preparation or an infusion. In rare cases, blood transfusions are necessary to treat anemia. If dilated or bleeding vessels appear during a colonoscopy, they may be obliterated during the reflection. There is also evidence that treatment with female sex hormones (estrogens and progestins) improves haemostasis in the gastrointestinal tract. These hormones stimulate the formation of coagulation factors in the liver that are responsible for blood clotting. If the coagulation factors circulate more often in the blood, this improves the body’s own hemostasis. However, this treatment option is only for Osler’s disease patients from the menopause in question.

Treatment of pulmonary symptoms

If there are pronounced vascular short circuits (anastomoses) in the lungs in Osler’s disease, they can be closed during a catheter examination. For this, the femoral artery is visited in the groin. With a small tube (catheter), the doctor can then penetrate in the vascular system up to the corresponding vascular change. This is closed by a small wire spiral or a balloon. The blood supply to the lungs is not affected.

Treatment of the symptoms of the central nervous system

If blood vessels in the brain are abnormally altered, they can be treated with neurosurgical measures. Possible treatment options should be taken together with neurologists (neurologists), neurosurgeons and radiologists and are always individual.

Osler’s disease: Disease course and prognosis

Since Osler’s disease is a genetic disease, healing in the narrower sense is not possible. However, the presented symptomatic treatment measures allow a largely normal life for most people suffering from Osler’s disease. Only diving with compressed air cylinders should be avoided by patients with a known short-circuit connection in the lungs, as they can more frequently cause life-threatening air embolisms.

Regular medical examinations usually allow you to quickly identify and treat potential complications of internal organ involvement before they cause discomfort. Pulmonary arterial venous malformations may increase with advancing age and during pregnancy, leading to serious problems due to bleeding.

Overall, disease progression and prognosis are not the same in all Osler patients. The range of possible complaints ranges from only mild restrictions to life-threatening complications as a result of Osler’s disease.