Brief overview
- Course of disease and prognosis: Not causally curable, prognosis varies from individual to individual; some patients lead an almost normal life, but severe to fatal complications are also possible
- Symptoms: Frequent nosebleeds, red spots on fingers and face, anemia, vomiting blood, blood in stool, water retention, blood clots
- Causes and risk factors: Change in genetic makeup
- Investigations and diagnosis: Specific diagnostic criteria, blood tests, imaging techniques, genetic diagnosis if necessary
- Treatment: Symptomatic treatment with medication and surgical procedures
What is Osler disease?
Osler disease (Rendu-Osler-Weber syndrome) was named after its discoverers and is also known as hereditary hemorrhagic telangiectasia (HHT). This term already conceals the essential features of this disease:
The word “telangiectasia” also comes from the Greek: “telos” (wide), “angeion” (vessel) and “ektasis” (extension). This is used to describe the red dot-like skin manifestations that are mainly visible on the face. These are pathological dilations of the smallest blood vessels (capillaries).
Osler’s disease is a rare disease. Experts estimate that about one in 5,000 people is affected. However, the frequency of the disease varies in different countries.
Is Osler disease curable?
Since Osler disease is a genetic disorder, a causal cure is not possible. However, various treatment options alleviate the symptoms so that those affected can lead a largely normal life.
Regular medical check-ups can usually detect and treat possible complications involving the internal organs quickly, before they cause symptoms. Certain changes in the pulmonary vessels sometimes enlarge over time and during pregnancy. Then there is a risk of serious complications as a result of bleeding.
Overall, the course of the disease and prognosis are not the same in all patients with Osler’s disease. Therefore, no general statement can be made about life expectancy with Osler disease. The spectrum of possible symptoms ranges from only mild limitations to severe complications.
Osler’s disease: What are the symptoms?
In addition, Osler’s disease affects the liver in very many patients, the gastrointestinal tract and the lungs in some, and somewhat less frequently the brain. In most cases, short-circuit connections develop between arteries and veins. This results in blood draining from the arteries (high pressure) into the veins (low pressure), causing the veins to fill excessively with blood.
The veins become overloaded due to the increased blood flow and blood stasis forms. Depending on the organ affected, this venous blood stasis has different consequences.
Nosebleed
Nosebleeds are the typical symptom of Osler disease: most patients experience spontaneous, severe and often recurrent nosebleeds in the course of the disease. There is no specific trigger such as an accident or fall. In most cases, nosebleeds are among the first symptoms of the disease and usually occur by the age of 20. In rare cases, it does not manifest itself until after that age.
Teleangiectasia
Liver
The liver is affected in about 80 percent of patients with Osler’s disease. Short-circuit connections between arteries and veins (shunts) are present. In most cases, these vascular changes do not lead to symptoms. Rarely, however, heart failure, hypertension of the hepatic vein, or biliary congestion occur. There is a risk of blood backing up in the lungs, liver or legs.
Symptoms such as shortness of breath, increased abdominal girth due to water retention in the abdominal cavity (ascites) or swollen legs are then possible.
High pressure in the hepatic vein sometimes leads to bypassing of the blood vessels and bleeding (hematemesis). Abdominal dropsy (ascites) also impairs the liver’s detoxification function. It is also possible that the liver does not produce enough clotting factors, causing bleeding to occur more easily.
Gastrointestinal tract
Teleangiectasias are also sometimes found in the gastrointestinal tract in Osler disease. They usually develop with increasing age and in some cases cause gastrointestinal bleeding. Symptoms such as blackening of the stool (tarry stools) or blood in the stool are then possible.
Repeated heavy bleeding usually leads to anemia, which is accompanied by symptoms such as pallor of the skin, fatigue and a reduced ability to work under pressure.
Lung
Short-circuit connections between arterial and venous vasculature in the lungs are usually larger and are referred to as pulmonary arteriovenous malformations (PAVM). They occur in about one-third of patients with Osler disease and sometimes cause hemoptysis as a symptom.
However, the embolus does not normally enter the arterial vascular system. In a paradoxical embolism, however, the blood clot enters the arterial circulation.
Central nervous system
Central nervous system symptoms in Osler disease usually result from short-circuiting of blood vessels in the lungs. Carried over material from the pulmonary veins leads in rarer cases to bacterial pus accumulation or stroke.
In addition, short-circuit connections between arteries and veins occur directly in the brain in Osler disease. They usually lead to symptoms such as headaches, seizures and bleeding.
What is the cause of Osler disease?
How can Osler disease be diagnosed?
If a patient reports symptoms of Osler disease, the doctor checks the so-called Curaçao criteria. These are four criteria typical of Osler disease. For the diagnosis to be reliable, at least three of these criteria must be met.
If only two of the criteria are positive, this only suggests that the disease is suspected, so that further examinations are necessary. If only one criterion is met, Osler disease is most likely not present.
1. nosebleed
In Osler’s disease, affected individuals experience recurrent nosebleeds without a specific trigger (for example, a fall).
2. telangiectasias
The physician checks whether there are red dot-like vascular dilatations on the lips, in the oral cavity, on the nose and on the fingers. Characteristic of the telangiectasias in Osler’s disease is that they disappear while you press on them with a transparent object (e.g. glass spatula).
To find out whether internal organs such as the lungs, liver or gastrointestinal tract are affected, various examinations are possible:
- Blood test: If the doctor suspects anemia caused by obvious or unnoticed blood loss (for example, via bleeding from the intestines) due to Osler’s disease, he draws blood. Among other things, he determines the hemoglobin level (Hb), which is too low in anemia.
- Gastroscopy and colonoscopy: gastroscopy and colonoscopy are necessary to detect vasodilatation in the gastrointestinal tract.
- Imaging: Vascular changes in the liver are detected by the physician with an ultrasound examination (sonography). Changes in the lungs or brain can be visualized in a computerized tomography (CT) or magnetic resonance imaging (MRI). To better identify the vessels, the patient sometimes receives a contrast agent via vein before the examination.
4. osler’s disease in the relatives
Although the diagnosis of Osler disease is predominantly made on the basis of the Curaçao criteria, genetic diagnosis is also possible with the aid of a blood sample. It is mainly performed in individuals with a more severe disease expression with lung involvement or when a typical gene alteration is present in affected family members.
How can Osler disease be treated?
An important goal in the treatment of Osler disease is to prevent bleeding and related complications.
The two main problems with Osler disease are, on the one hand, the pathologically dilated vessels from which bleeding occurs more or less regularly. On the other hand, short-circuit connections (anastomoses) in internal organs damage the organ function of the affected organs (especially lungs and liver) and sometimes lead to severe bleeding.
Treatment of nosebleeds
Many sufferers find frequent nosebleeds distressing. The following measures are used to treat it in Osler disease:
Nasal ointments and nasal tamponade.
Nasal ointments are used to prevent frequent nosebleeds in Osler disease. They moisten the nasal mucosa, reducing the risk that it will tear and bleed.
A nasal tamponade is sometimes necessary for acute, severe bleeding. A tamponade is a filler that is stuffed into the nostril to stop bleeding. There are tamponades made of different materials. It is important that the material can be easily removed from the nasal mucosa. Tamponades specially designed for nosebleeds are available in pharmacies.
Coagulation
Skin grafting
If the nasal wall is almost completely covered with the vascular dilatations typical of Osler’s disease, one treatment option is skin grafting. In this procedure, the nasal mucosa is first removed and then replaced with skin from the thigh or with oral mucosa. With this procedure, the nosebleed disappears relatively reliably.
However, in some people, the procedure results in a dry nose with bark and crusts and a loss of smell.
Surgical closure of the nose
In cases of extremely severe symptoms, the doctor and patient sometimes decide to completely close the nose surgically. As a result, nosebleeds no longer occur. However, affected individuals must breathe through the mouth for the rest of their lives.
This procedure is mainly used for people with Osler’s disease who have to take blood-thinning medication and therefore find it difficult to stop a nosebleed.
Medication
Treatment of liver symptoms
In Osler’s disease, doctors treat liver involvement as long as possible only with medication. Surgery carries a high risk of bleeding, which physicians want to avoid, especially in patients with Osler’s disease. Drugs such as beta blockers reduce existing high blood pressure in the portal vein.
Other treatment options depend on the individual symptoms. Endoscopic closure of the altered liver vessels or, in extreme cases, liver transplantation are associated with high risks and are therefore avoided as far as possible in people with Osler’s disease.
Treatment of symptoms of the gastrointestinal tract
There is also evidence that therapy with female sex hormones (estrogens and progestins) improves hemostasis in the gastrointestinal tract. These hormones stimulate the formation of clotting factors in the liver, which are responsible for blood clotting. When the clotting factors circulate more in the blood, this improves the body’s own hemostasis.
However, this treatment option is only considered for female patients with Ossler’s disease who are menopausal or older.
Treatment of pulmonary symptoms
If there are pronounced vascular short circuits (anastomoses) in the lungs in Osler’s disease, these can be closed during a catheter examination. To do this, the physician visits the femoral artery in the groin. There, he inserts a small, flexible tube (catheter) into the blood vessel and pushes it forward to the corresponding vascular change.
Treatment of central nervous system symptoms
When blood vessels in the brain are abnormally altered by Osler disease, neurosurgical procedures are available. Possible treatment options are usually selected by neurologists, neurosurgeons and radiologists in joint consultation, suitable for the individual case.
