Osler's disease: what is it?

Keeping nosebleeds? In some people there is an inherited disease of the vascular connective tissue behind it, which means much more than "just nosebleeds"

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Osler's disease - briefly explained

Osler's disease, also known as hereditary hemorrhagic telangiectasia (HHT), is a hereditary disease of the blood vessels and causes the affected blood vessels to dilate. Depending on the region, the symptoms vary; the most common symptoms are nosebleeds, bleeding in the gastrointestinal area, anemia and vasodilatation under the skin, which are visible from the outside as red dots (telangiectasias). These vasodilatations bypass hair vessels (capillaries) in the sense of a short circuit between arteries and veins.

These vasodilatations can also be found in larger forms in the lungs, liver and brain, where they can lead to bleeding or problems due to the short circuit. A good preventive medical check-up is therefore of great importance for those affected. Osler's disease is diagnosed based on medical history and a physical examination. Further examinations and imaging procedures help to identify the affected regions. Osler's disease is not yet curable, but there are many treatment options to relieve the symptoms and avoid complications. This includes good nose care, medication, surgery, or blood transfers.

What is Osler's disease?

The disease has many names: Osler's disease, Rendu-Osler-Weber syndrome or hereditary hemorrhagic telangiectasia (HHT). That means something like disease of the "hereditary bleeding vasodilatation".

It is based on a hereditary change in blood vessels and their surrounding connective tissue. The vessels wear out, so to speak, and become wide. These changes are called differently depending on their size: small short-circuit connections between arterial and venous blood vessels are called telangiectasias, larger ones are usually called arteriovenous malformations (vascular malformations). Such vasodilatation and short-circuit connections can in principle affect all vessels in the body; they are particularly common in the area of ​​the nose and mouth, but can also affect internal organs (lungs, gastrointestinal tract, liver) and the brain. These altered vessels can tear and lead to stubborn bleeding, especially in exposed areas of the nose, and more rarely in the gastrointestinal tract.

One to two in 10,000 people have this condition. It is assumed that around 85,000 people are affected in Europe. This makes it one of the more common of the rare diseases. Osler's disease can occur at any age, but mostly during puberty.

Causes: How does Osler's disease come about?

Osler's disease is a hereditary genetic disorder, which means that it is inherited. It is an autosomal dominant inheritance (see box below: background information). The changes for the most common types are on chromosome 9 or chromosome 12.If the change is found on chromosome 9, it is hereditary hemorrhagic telangiectasia type 1 (HHT 1), if it is on chromosome 12, then it is from HHT 2 the speech. Lung and brain involvement are more common in HHT 1, and liver involvement in HHT 2.

Inheritance from M. Osler

© W & B / Astrid Zacharias

Background information: inheritance

A child receives one gene from the mother and one gene from the father. An autosomal dominant inheritance means:

autosomal: the disease is caused by a gene that does not belong to the sex genes

dominant: The disease becomes manifest when a gene has the characteristic for this disease. It overlays the other gene, so to speak (see graphic) and is dominant.

In our example, the mother has Osler's disease and has a disease-causing gene (marked in black here). The father has two healthy genes (marked in white). Since one gene is inherited from the mother (black or white) and one gene from the father (always a white one), there is a 50 percent probability that a child will inherit the disease. Since it does not affect the gender genes, the probability is the same for girls and boys. This also shows that there can be both healthy and sick children within a family.

Symptoms: Which symptoms can occur with Osler's disease?

More than 90 percent of those affected suffer from frequently recurring and difficult-to-stop nosebleeds. It usually occurs for the first time before the age of 20. Only rarely does the disease cause no symptoms until the age of seven.

The disease is also characterized by enlarged vessels recognizable as red dots in the area of ​​the mouth and nose. In childhood, the disease sometimes appears for the first time in the form of neurological disorders such as paralysis or severe headaches.

Osler's disease: Punctiform vasodilatation is a typical symptom

© www.dermis.net

Neurological symptoms can also occur in adulthood. Often it is not vascular changes in the brain but rather vascular changes in the lungs that are responsible for this. The connection is as follows: A healthy lung can, like a sieve, collect and filter out small blood clots and bacteria from the blood. If there are short-circuit connections between arteries and veins in Osler's disease, such small blood clots or bacteria can get into the brain vessels and lead to strokes or accumulations of pus (abscesses).

In addition, the vascular changes in the lungs can become larger with increasing age or during pregnancy and lead to bleeding.

Bleeding from the vascular changes in the gastrointestinal tract usually only occurs after the age of 50. If they occur, blood transfusions are often necessary.

Anemia (anemia), which can be noticeable due to exhaustion and paleness, can also indicate Osler's disease.

Diagnosis: How is Osler's disease diagnosed?

Criteria (so-called Curaçao criteria) for diagnosing Osler's disease are:

  • recurrent nosebleeds (epistaxis)
  • Visible punctiform vascular enlargements in characteristic areas such as the face, lips, tongue, nose, ears or fingertips (telangiectasia)
  • Heredity, that is, there is at least one first-degree relative with Osler's disease
  • the involvement of internal organs, such as changes in the vessels in the gastrointestinal area (gastrointestinal telangiectasia) or in the brain (cerebral vascular malformation, CVM), short circuits between veins and arteries in the lungs (pulmonary arteriovenous malformations, PAVM) or the liver ( hepatic arteriovenous malformations, HAVM)

Osler's disease is suspected from two criteria, and from three criteria the disease is considered "clinically proven".

Investigations:

  • ENT medical examination: Here attention is paid to typical punctiform bleeding ("Osler foci") in the area of ​​the nose, oral cavity and throat.
  • Gastrointestinal endoscopy: A gastrointestinal endoscopy can reveal bleeding or vascular changes. A gastrointestinal mirror is usually initiated when an anemia is found in the laboratory. A routine examination without cause is not necessary due to the M. Osler's.
  • Imaging procedures: In contrast, an examination without further cause (serial examination or screening) is recommended to clarify the lungs. Here, an ultrasound examination of the heart with a contrast medium (echocardiography) or a computer tomography (CT examination) of the lungs are used. At the moment it is only recommended on occasion to search for vascular changes in the liver using ultrasound or the brain using magnetic resonance imaging (MRI).

In principle, there is the possibility of a genetic test. It is appropriate if there is an urgent suspicion of Osler's disease, but three criteria do not apply. It also serves to identify other affected persons in a family before symptoms or even complications of the disease occur. However, it is important to have comprehensive advice on the possible advantages and disadvantages of such a test.

Therapy: How is Osler's disease treated?

Therapy for Osler's disease is based on the symptoms.

  • Treatment of nosebleeds

For most of those affected, the frequent and persistent nosebleeds are in the foreground. The first goal should be prevention. For this, nasal care with nasal oil, gel, ointment or rinse is suitable. Which preparations are suitable for this and how they are to be used should be discussed with the doctor or pharmacist.

In the case of acute bleeding, nasal packing may be necessary. For this purpose, the doctor ideally uses material that has the lowest possible risk of bleeding again when removed (e.g. Vaseline ointment strips, latex-free rubber fingerlings, gel-coated balloon tamponades) or self-dissolving tamponades. Certain tamponades are also suitable for self-treatment of experienced sufferers after appropriate training.

Often these measures alone are not enough. Then surgical procedures to prevent nosebleeds are necessary:

The procedure of first choice is laser or electrocoagulation of the enlarged blood vessels - they are, so to speak, obliterated. This treatment is relatively simple and can reduce the frequency and severity of nosebleeds.

If this therapy is unsuccessful, the ENT doctor can replace the nasal mucosa with less sensitive skin (for example from the mouth or thigh). However, areas of the mucous membrane that have not been replaced may continue to bleed. Vascular changes can also occur in the transplanted skin - but this rarely happens.

The doctor can completely prevent the occurrence of nosebleeds by completely closing the main nasal cavity. However, this leads to a complete loss of nasal breathing and the sense of smell. This treatment may be necessary, for example, if blood thinning is necessary due to other diseases.

There are also drugs that reduce the tendency to bleed. So far only tranexamic acid has been approved, which can be prescribed as tablets for Osler's disease. But other drugs that interfere with the signaling pathway of female sex hormones, for example, can reduce the bleeding.

  • Treatment of vasodilatation in the face:

Bleeding or disfiguring vascular dilatations (telangiectasias) in the face can be removed using suitable lasers.

  • Treatment of vascular changes in the lungs:

Vascular changes in the lungs can be closed with a relatively low risk and good results using spirals and balloons (catheter embolization). If left untreated, they can have serious consequences because the filter function is no longer available and clots and bacteria can pass through the lungs (see section on signs of disease). In the worst case, strokes and foci of pus (abscesses) develop in the brain.

Patients with Osler's disease and pulmonary vascular malformations are at increased risk of brain infections. You should therefore be given antibiotics as a preventive measure if medical interventions are pending that could lead to bacterial entrainment. It is best for those affected to carry an emergency ID card with them that indicates this special situation (available, for example, from the German-speaking self-help service at www.morbus-osler.de)

In addition to pulmonary vascular malformations, pulmonary hypertension requiring treatment can also occur.

  • Treatment when the gastrointestinal tract is involved:

People over the age of 35 should have their red blood pigment (hemoglobin, Hb) determined at least once a year. If the value is lower than expected, an endoscopy is advisable. Moderate anemia responds to iron supplements (oral or infusion). Treatment with estrogen-progesterone supplements can reduce the need for transfusions. However, this treatment has serious side effects in men. If you have frequent transfusions, vaccination against hepatitis B is advisable.

A rare special form is the combined disease of Osler's disease with polyposis of the intestine - that is, an increased occurrence of small tumors in the intestinal mucosa. These tumors are initially benign, but can degenerate and become malignant tumors. A precautionary measure is a colonoscopy to detect such changes in good time.

  • Treatment for liver involvement:

Vascular changes in the liver are common, but usually remain symptom-free and therefore often do not require any therapy. Even if symptoms occur, treatment with medication (such as beta blockers and diuretics, so-called "water tablets") is often sufficient as a first step. If necessary, the affected hepatic arteries can be closed using various methods or a liver transplant can be performed.

As an alternative, treatment with an antibody (bevacizumab) that is not approved for this purpose has become increasingly popular in the past few years as a healing attempt. Originally used in colon cancer, this drug blocks a blood vessel growth factor. In addition to serious liver involvement, it can also be used for bleeding from the intestines or nose, but due to the possible side effects, it is used cautiously and only after the affected person has been informed in detail.

Prof. Dr. Urban Geisthoff

© Essen University Hospital

Our advisory expert:

Prof. Dr. Urban Geisthoff is a specialist in ENT medicine and deputy clinic director of the clinic for ear, nose and throat medicine in Marburg. There he heads the Angioma Center in Marburg. Part of this is the Center for Hereditary Hemorrhagic Telangiectasia, which is one of its main focuses.

Swell:

  • Claire L Shovlin, PhD, FRCP. Clinical manifestations and diagnosis of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Post TW, ed. UpToDate. Waltham, MA: UpToDate Inc. http://www.uptodate.com (accessed July 13, 2020)
  • Claire L Shovlin, PhD, FRCP. Hereditary hemorrhagic telangiectasia (HHT): Evaluation and therapy for specific vascular lesions. Post TW, ed. UpToDate. Waltham, MA: UpToDate Inc. http://www.uptodate.com (accessed July 13, 2020)
  • Faughnan ME, Palda VA, Garcia-Tsao G et al., International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Journal of Medical Genetics 2011; 48: 73-87. http://dx.doi.org/10.1136/jmg.2009.069013
  • National Association of Statutory Health Insurance Physicians. Osler's disease - more than just nosebleeds. Online: https://www.kbv.de/html/3666.php (accessed on July 9, 2020)
  • University Hospital Regensburg, ENT clinic, Osler's disease. Online: https://www.ukr.de/kliniken-institute/hals-nasen-ohren-heilkunde/Medizinische_Leistungen/Morbus_Osler/index.php (aberufen on July 9th, 2020)

Important note: This article contains general information only and should not be used for self-diagnosis or self-treatment. He can not substitute a visit at the doctor. Unfortunately, our experts cannot answer individual questions.

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