Osler's disease is a rare hereditary disease that is virtually unknown to the general public. It is also known as Rendu-Osler-Weber syndrome and hereditary hemorrhagic telangiectasia (HHT). Osler's disease patients suffer from vascular malformations, which can occur mainly in the face, but also in internal organs.
Here you will find further information as well as selected Osler's disease specialists and centers.
Osler's disease leads to abnormally dilated blood vessels. The areas of the face are particularly affected, especially around
Occasionally, the blood vessels of internal organs are also affected, such as
It is extremely rare for blood vessels in the brain to be affected.
If the overstretched blood vessels rupture, diffuse bleeding can occur. As Osler's disease is a congenital disease, it can already become noticeable in childhood. Here, nosebleeds are the most common problem reported by patients.
Osler's disease can occur for the first time at very different ages. The most common nosebleed can be observed in children. Nosebleeds often occur before the age of 20, sometimes not until the seventh decade of life.
The inheritance of Osler's disease is autosomal dominant. This means that children of an affected person have a 50 percent risk of developing the disease . Their gender does not play a role.
Autosomal dominant means that one affected gene is enough to cause the disease to develop. In contrast, autosomal recessive means that both genes must be diseased in order to develop the disease; one is not enough. Autosomal dominant inherited diseases are significantly more common than autosomal recessive ones, at least patients notice the disease and have typical problems and symptoms.
The main symptom of Osler's disease is nosebleeds, also known as epistaxis. Around 80 to 90 percent of those affected suffer from it.
Nosebleeds can be very persistent: new vessels or bypasses often form after vascular ligations or vascular occlusions performed by a doctor. These can also bleed.
Punctiform vascular dilatations (telangiectasias) become visible on the face. They can be seen around the nose and mouth area as well as on the cheeks and ears.
Vascular damage to the face due to Osler's disease © Svetlana | AdobeStock
The symptoms of Osler's disease are less obvious in the internal organs. Around 5 to 15 percent of Osler's disease patients have vascular malformations in the lungs. The heart is also frequently affected here, which is overloaded due to its required increased pumping capacity.
Bleeding in the gastrointestinal tract triggers so-called tarry stools . This is characterized by its shiny black color. It occurs when blood comes into contact with stomach acid. Tarry stools therefore mean that the bleeding occurs in or above the stomach (in the mouth or esophagus). Bleeding in the small or large intestine does not usually lead to tarry stools.
Bleeding in the brain caused by hereditary haemorrhagic telangiectasia is particularly risky. Among other things, it can cause a stroke.
Neurological symptoms such as severe headaches or paralysis can also indicate Osler's disease.
There are several criteria for the diagnosis of Osler's disease:
If only one of these diagnostic criteria is met, Osler's disease is considered unlikely. If two criteria are met, it is possible; if three or more are met, it is certain.
There is also the option of genetic testing.
Osler's disease is often difficult to treat. The symptoms are treated, as the cause cannot be cured. The most common bleeding complications and their treatment options are discussed in more detail below.
A general distinction is made between conservative and surgical measures. In the case of conservative procedures, it is sufficient to administer medication or apply bandages etc., whereas so-called "invasive" measures (i.e. interventions in the integrity of the body) require surgical intervention.
Nosebleeds (medically known as epistaxis) are the most common, and sometimes the only, clinical sign of Osler's disease. Special nasal oils and nasal gels as well as rinses and ointments can prevent bleeding.
If bleeding has already occurred, tamponade has proven effective. Vaseline ointment strips and latex-free rubber finger cots, which do not stick to the inside of the nose, are particularly recommended. Finger cots containing latex can trigger new bleeding when they are removed.
Many sufferers opt for surgical treatment for nosebleeds caused by Osler's disease. They can choose between electrical or laser sclerotherapy of the blood vessels.
If this treatment method does not bring the desired success, an autologous tissue transplant is possible. This is carried out by an ear, nose and throat specialist. He replaces part of the nasal mucosa with other areas of skin, for example from the oral cavity or the thigh. However, there is a residual risk that the areas of mucous membrane that are not replaced may continue to bleed.
As a last and drastic measure, the complete closure of the nasal cavity remains. This is basically only recommended if other illnesses make blood thinning necessary. As a result, patients lose their sense of smell and can no longer breathe through their nose.
Vascular dilatation on the face is usually perceived by those affected as a blemish. It is not only the vasodilatation itself that is noticeable, but also the bleeding that occurs.
Laser treatment can provide a remedy here. However, there are often recurrences of bleeding, which is why several procedures are usually necessary.
After the nose and face, changes in the liver are the third most common manifestation of Osler's disease. Vascular dilatations are also known medically as telangiectases. However, liver telangiectases rarely cause any symptoms. If they do, dehydration tablets or beta blockers often help. It is also possible to close altered hepatic arteries with catheters. However, this is not easy and complications are common. In severe cases, doctors also consider a liver transplant.
Untreated vasodilatation in the lungs can cause serious damage to health. Doctors therefore advise patients with Osler's disease to have a computer tomography(CT) scan of the lungs.
The treatment of vasodilatation in the lungs is relatively low-risk and usually successful. The doctor uses catheter embolization to close the dilated vessels with balloons and coils.
Several treatment methods are possible for vasodilatation in the gastrointestinal tract. Osler's disease patients over the age of 35 should have their red blood pigment, haemoglobin, tested at least once a year. If the value is below average, doctors recommend a colonoscopy.
While mild anaemia can be treated with iron supplements, a blood transfusion may be necessary in the event of major blood loss. In the case of multiple blood transfusions, prior preventive hepatitis B vaccination is advisable.
Oestrogen-progesterone medication can reduce the need for transfusions. However, this medication has serious side effects in men.
Vascular malformations can occur in the brain in the form of cerebral vascular malformations (CVM) . As bleeding does not necessarily occur here, the doctor first clarifies the risk of bleeding and the associated therapy.
Magnetic resonance imaging(MRI) is helpful in the treatment of vasodilatation in the brain. In the case of treatment, the doctor closes malformed blood vessels using a catheter or by opening the skull.
Nosebleeds can certainly lead to major blood loss, but can usually be treated and stabilized with a tamponade. Nevertheless, it is advisable for patients suffering from Osler's disease to apply for an emergency card.
Blood clots and bacteria can enter the rest of the bloodstream via vascular short circuits in the lungs. Strokes and purulent brain infections are possible consequences.
Even medical procedures such as dental treatment can lead to bacteria entering the bloodstream. Patients with vascular short circuits in the lungs should therefore take antibiotics before such procedures.
Osler's disease patients with pulmonary vascular malformations should always carry an emergency card with them. It should also contain information about their particular risk of brain infection during medical procedures.
Another risk of Osler's disease with pulmonary vascular malformations is pulmonary hypertension, which must be treated.
If Osler's disease occurs together with polyposis of the intestine, special care is also required in treatment.
The small intestinal mucosal tumors that occur frequently in polyposis are initially benign. However, they can degenerate over time and become malignant tumors. Regular colonoscopies help to detect this in good time.
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