Osler’s Disease

Osler’s disease is one of the rare vascular diseases that affects the blood vessels in the skin and the mucous membrane in particular. The diseased vessels are dilated and thin-walled. Because of this, they can tear easily, which in turn causes bleeding.

Osler’s Disease

What is Osler’s disease?

Osler’s disease is a vascular disease characterized by malformations of the blood vessels. These malformations include short circuits between veins and arteries as well as easily damaged vascular dilatations. See growtheology for Comprehensive Guide to CREST Syndrome.

The first sign of this disease is usually repeated nosebleeds. If this is severe, it can cause anemia. The small and abnormal vasodilatations can be seen as tiny, reddish, irregularly shaped spots on the face. They often appear on the fingertips and on the mucous membranes of the nose and mouth.

With increasing age, the spots increase steadily up to the age of 50. The changes in the vessels can also affect internal organs, so that further consequences are possible. The vascular disease Osler’s disease can also cause bloody tears, blood in the urine, a tar-like stool, heart failure and a stroke.


Osler’s disease is a hereditary disease. It develops through specific damage to a carrier of DNA. This defect is dominant and is not gender specific. This means that there is a 50% chance that a child will be affected by Osler’s disease if one of the parents has this vascular disease.

This genetic defect can be located on two different genes, which in turn are located on two different chromosomes. Both genes affect the inner lining of the blood vessels. In Osler’s disease, they are defective, so that the smallest blood vessels are affected. They expand and become vulnerable and thin-walled.

Furthermore, short-circuit connections develop between veins and arteries. The malformations of the vessels and their hereditability are the reasons why Osler’s disease is also called hereditary hemorrhagic telangiectasia.

Symptoms, Ailments & Signs

Osler’s disease can cause very different symptoms, always depending on the severity of the disease and the location of any Osler nodules. The genetic defect primarily manifests itself through recurring bleeding, especially nosebleeds and skin bleeding in the facial area. As a result of this so-called telangiectasia, anemia can occur.

Symptoms such as tiredness and difficulty concentrating then appear . Iron deficiency anemia can accompany this, which limits the physical and mental performance of those affected and causes long-term damage to bones, teeth and nails. Osler’s disease generally becomes apparent at the onset of puberty or later in life.

The external signs gradually increase until the age of 50 before they stagnate or gradually recede. The main symptom is red to bluish-purple spots that reach a size of one to four millimeters and appear irregularly.

They are mainly located on the mucous membranes of the mouth and nose and on the fingertips. In individual cases, internal organs and tissue are affected by the vasodilatation. If the genetic defect is based on a damaged endoglin gene, vascular damage also occurs in the lungs. A damaged ALK-1 gene results in milder symptoms overall.

Diagnosis & History

The diagnosis of Osler’s disease is usually based on the assessment of the presenting symptoms. The classic symptoms include frequent nosebleeds and red spots on the face and fingers.

A thorough anamnesis can also provide helpful information for the diagnosis. If there is a suspicion of this hereditary vascular disease, imaging methods are also used. Endoscopy, ultrasound, and computed tomography can be used to determine if internal organs are affected.

Blood samples can also be taken to confirm the diagnosis. Molecular genetics are used to examine these in order to identify the responsible malformations in the genome. How the disease progresses depends on the genetic defect and the impairment of the organs. Depending on the severity of Osler’s disease, complications can also occur, such as bleeding in the brain, strokes, abscesses and heart failure.


Those affected suffer from various complaints as a result of Osler’s disease. In most cases, this leads to increased bleeding. These can also occur in the skin, so that small bleeding under the skin can be seen. It is not uncommon for patients to suffer from nosebleeds and anemia. The anemia has a very negative effect on the entire organism of the patient and can lead to fatigue and exhaustion.

The resilience of those affected also drops enormously as a result of Osler’s disease and there is an iron deficiency. Various organs can also be affected and damaged by Osler’s disease. For this reason, treatment of this disease is definitely necessary. Self-healing of Osler’s disease does not occur.

Osler’s disease can be treated. However, the treatment is only aimed at reducing the symptoms, a causal treatment is not possible. Many complaints can be reduced with the help of blood transfusions or skin transplants. The life expectancy of those affected is usually not reduced by the disease. Special complications do not arise during the treatment either.

When should you go to the doctor?

The time of the first visit to the doctor is usually early in the case of symptoms caused by Osler’s disease. At the latest in puberty, typical symptoms manifest and the clinical picture becomes recognizable. The family doctor is consulted as soon as the first complaints appear.

Children who frequently have nosebleeds for no apparent reason or who have visible vasodilation in the area of ​​the nose cause their parents to be concerned. Osler’s disease can affect the entire body. This condition is often inherited in the family.

Most often, an ENT doctor is consulted because of frequent and long-lasting nosebleeds. The superficial Osler foci in the nose are easily recognizable for an experienced doctor. If necessary, the doctor will refer the affected child to a specialist clinic for further examinations. The involvement of other organ systems must be clarified if Osler disease is suspected. There is a risk of internal bleeding.

Since hereditary hemorrhagic telangiectasia is hereditary, the symptoms should be clarified and treated promptly. Interdisciplinary treatment approaches are often necessary in order to develop an appropriate treatment strategy. The recommended therapy can then be monitored by the general practitioner or an ENT specialist. More than symptom relief and acute treatment of bleeding is not possible with Osler’s disease. Regular visits to the doctor or occasional emergency calls are therefore to be expected.

Treatment & Therapy

Therapy for Osler’s disease aims to alleviate the symptoms of the vascular disease. The cause cannot be eliminated at the moment. Which treatment options are available depends on the symptoms and the individual circumstances.

Frequent nosebleeds can be stopped with nasal packing. In addition, nosebleeds can be curbed by sclerosing the dilated vessels with a laser. This laser therapy is usually only for a short period of time. Long-term success is promised from a skin transplant. Here, the diseased nasal mucosa is replaced with skin from other parts of the body. Skin is often removed from the thigh.

But there are also gentler methods that promise help. These include specific creams designed to protect the mucous membrane from damage. Occasionally, the vascular disease also causes anemia due to the frequent bleeding. Then it makes sense to treat the anemia with iron supplements. If the blood loss is very severe, blood transfusions are also integrated into the therapy.

If internal organs are affected and cause problems, the vascular connections can be closed by inserting metal spirals. If this does not succeed, an operation is a possible treatment method for Osler’s disease.


Morbus Osler is a congenital disease which, according to the current state of knowledge, cannot be completely and in particular not causally treated. The disease is characterized by a variety of symptoms that correlate with dilated blood vessels. For this reason, Osler’s disease affects various areas and organs of the human organism.

Some of the symptoms of the disease can be treated individually and symptomatically, so that follow-up care measures can be carried out for the respective treatments. However, general follow-up care for Osler’s disease is not possible because the disease is incurable. The nosebleeds that often occur in patients with Osler’s disease can be treated with surgery, which, however, does not completely eliminate the causes and thus the symptoms.

After the nose operation, particular attention must be paid to hygiene and avoiding infection with flu viruses so that the operated nasal mucous membranes can heal. Some patients experience increased bleeding in the gastrointestinal tract. Here, too, various treatment options are possible, for example using laser radiation.

As part of the follow-up care after such therapy methods, those affected strictly adhere to the prescribed diet plans so that the stomach and intestines can recover from the interventions. In general, patients with Osler’s disease undergo regular check-ups with various specialists in order to monitor the state of the vasodilation of internal organs.

Outlook & Forecast

Osler’s disease is an incurable genetic disease. The prognosis depends on the type of disease and the respective symptoms and symptoms. The symptomatic treatment reduces typical symptoms such as pain and skin changes and enables the patient to lead a relatively symptom-free life. Regular medical check-ups serve to detect and treat complications at an early stage.

The only problem is the pulmonary arterial-venous malformations, which can cause life-threatening bleeding with advancing age and in pregnant women. Due to the risk of air embolism, Osler’s disease may no longer be used for diving with a compressed air cylinder if short-circuit connections in the lungs have been diagnosed.

The outlook and prognosis of Osler’s disease are based on the course of the disease and the individual symptoms. A wide variety of courses are possible, from barely noticeable restrictions to severe complications. In individual cases, a liver transplant is necessary, which is associated with severe limitations for those affected. Life expectancy with type 1 HHT is shorter if the condition is left untreated or if there are short-circuit connections in the lungs and brain. Patients with type 2 HHT have a normal life expectancy with appropriate treatment.


There are no preventive measures for the hereditary disease Osler’s disease. If this genetic defect is present, various measures can be taken to counteract the development of complications. Those affected should avoid alcohol, nicotine, stress and heavy physical exertion and bending over. The diet should be done consciously. Lots of salad, little meat and avoiding acidic berries are advisable.

You can do that yourself

In the case of Osler’s disease, the focus is on comprehensive medical treatment. Depending on the severity of the disease, those affected can take a number of measures themselves to reduce the symptoms and support the healing process.

Cooling and rest, among other things, help against the typical nosebleeds. Since the vessel walls are particularly sensitive, all kinds of violent impacts should be avoided. If the bleeding leads to anemia, the doctor must be informed in any case. In mild cases, the deficiency symptoms can be reduced by changing the diet. In any case, those affected must drink plenty of water or spritzers and eat a balanced diet. Since the typical Morbus Osler symptoms usually appear during puberty, therapeutic support makes sense. Visiting a self-help group can help those affected to better accept the disease.

In general, those who are ill require comprehensive support from medical specialists and psychologists. Family members should watch for unusual symptoms and, if in doubt, call emergency services. Support from people close to you is particularly important in the later stages of the disease. In addition, close monitoring by the doctor is always necessary.