Osler disease is one of the rare vascular diseases, which particularly affects blood vessels of the skin and mucosa. The diseased vessels are dilated as well as thin-walled. For this reason, they can easily rupture, which in turn causes bleeding.
What is Osler disease?
Osler disease is a vascular disease characterized by malformations of the blood vessels. These malformations include short circuits between veins and arteries and rapidly vulnerable vasodilatations. The first sign of this disease is usually repeated nosebleeds. If this is severe, it can cause anemia. The small and pathological vascular dilations may be seen as tiny, reddish and irregularly shaped spots on the face. They also frequently appear on the fingertips and on the mucous membrane of the nose as well as the mouth. With increasing age, the spots increase steadily until the age of 50. However, the changes in the vessels can also affect internal organs, so that further consequences are possible. Thus, the vascular disease Osler disease can also cause bloody tears, blood in the urine, a tar-like stool, heart failure and a stroke.
Causes
Osler disease is an inherited disorder. It develops due to 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 disease if one parent 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 blood vessels. In Osler disease, they are defective, so that the smallest blood vessels are affected. They dilate and become vulnerable as well as thin-walled. Furthermore, short-circuit junctions develop between veins and arteries. The malformations of the vessels and their heritability are the reasons why Osler disease is also called hereditary hemorrhagic telangiectasia.
Symptoms, complaints, and signs
Osler disease can cause quite different symptoms, always depending on the severity of the disease and the location of any Osler nodules. First and foremost, the genetic defect is manifested by recurrent bleeding, especially nosebleeds and skin bleeding around the face. As a consequence of this so-called telangiectasia, anemia may occur. Symptoms such as fatigue and concentration disorders then occur. This can be accompanied by iron deficiency anemia, which limits the physical and mental performance of those affected and causes long-term damage to the bones, teeth and nails. Osler disease generally becomes apparent at the onset of puberty or later in life. The outward signs gradually increase until age 50 before stagnating or gradually regressing. The main symptom is red to bluish-purple spots that reach a size of one to four millimeters and appear irregularly. They are mainly localized on the mucous membranes of the mouth and nose and on the fingertips. In individual cases, internal organs and tissues are affected by the vascular dilatations. If the genetic defect is based on a damaged endoglin gene, vascular damage also occurs in the lungs. A damaged ALK-1 gene is manifested by milder symptoms overall.
Diagnosis and progression
The diagnosis of Osler disease is usually made by assessing the presenting symptoms. Classic symptoms include a frequent nosebleed and the red patches on the face and fingers. A thorough medical history can also provide helpful clues for diagnosis. If this hereditary vascular disease is suspected, imaging techniques are also used. Endoscopy, ultrasound and computer tomography can be used to determine whether internal organs are affected. Blood samples can also be taken to confirm the diagnosis. These are examined by molecular genetics to detect the responsible malformations in the genetic material. The further course of the disease depends on the genetic defect and the impairment of the organs. Thus, depending on the severity of Osler disease, complications can also occur, such as bleeding in the brain, strokes, abscesses, and heart failure.
Complications
As a result of Osler disease, those affected suffer from a variety of symptoms.In most cases, there is increased bleeding. This can also occur in the skin, so that small hemorrhages can be seen under the skin. It is not uncommon for patients to suffer from nosebleeds and anemia. Anemia has a very negative effect on the patient’s entire organism and can lead to fatigue and exhaustion. Also the resilience of the affected person decreases enormously by the Morbus Osler and it comes to a lack of iron. Various organs can also be affected and damaged by Osler’s disease. For this reason, treatment of this disease is necessary in any case. There is no self-healing of Osler’s disease. Osler’s disease can be treated. However, the treatment is aimed only at limiting the symptoms, a causal treatment is not possible. With the help of blood transfusions or skin grafts, many symptoms can be limited. The life expectancy of the affected person is usually not reduced by the disease. Particular complications also do not occur during treatment.
When should you see a doctor?
The time to see a doctor for the first time is usually early in the case of symptoms caused by Osler disease. At the latest during puberty, typical symptoms manifest themselves and the disease pattern becomes recognizable. The family doctor is consulted as soon as the first symptoms appear. Children who frequently have nosebleeds for no apparent reason or show visible vasodilatation in the area of the nose cause their parents to become concerned. With Osler disease, the entire body can be affected. Often this disease is inherited in the family. Most often, an otolaryngologist is consulted because of frequent and prolonged nosebleeds. The superficial Osler foci in the nose are easily recognizable by an experienced physician. If necessary, the physician refers the affected child to a specialist clinic for further investigations. Involvement of other organ systems must be clarified if Osler’s disease is suspected. There is a risk of internal bleeding. Since hereditary hemorrhagic telangiectasia is hereditary, the symptoms should be clarified and treated promptly. Often, interdisciplinary treatment approaches are necessary to develop an appropriate treatment strategy. The recommended therapy can then be monitored by the primary care physician or an otolaryngologist. More than symptom relief and acute treatment of bleeding is not possible with Osler disease. Regular physician visits or occasional emergency department visits are therefore to be expected.
Treatment and therapy
Therapy for Osler disease is intended to relieve the symptoms of the vascular disease. At present, the cause cannot be corrected. Which therapy options occur depends on the symptoms and individual circumstances. A frequent nosebleed can be stopped by nasal tamponades. Furthermore, nosebleeds can be controlled by sclerosing the dilated vessels with a laser. In most cases, this laser therapy is only of short-term duration. A long-term success is promised by a skin transplantation. Here, the diseased nasal mucosa is replaced by skin from other parts of the body. Skin is often taken from the thigh. However, there are also gentler methods that promise help. These include specific creams designed to protect the mucosa from damage. Occasionally, the vascular disease also causes anemia due to the frequent bleeding. In such cases, anemia can be treated 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 discomfort, the vascular connections can be closed by inserting metal coils. If this is unsuccessful, surgery is an option as a treatment for Osler disease.
Follow-up care
Osler disease is a congenital disorder that, according to current knowledge, cannot be treated completely and, in particular, cannot be treated causally. Typical of the disease are 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 symptomatically, so that aftercare measures are feasible for the respective treatments. However, there is no general aftercare for Osler disease because the disease is incurable.The frequent nosebleeds in patients with Osler’s disease can be treated by surgery, which, however, does not completely eliminate the causes and thus the symptoms. After nasal surgery, special attention must be paid to hygiene and to avoiding infection with influenza viruses so that the operated nasal mucosa can heal. Some patients experience increased bleeding in the gastrointestinal tract. Here, too, various treatment options come into question, for example by means of laser irradiation. As part of the aftercare following such treatment methods, those affected adhere strictly to prescribed dietary plans so that the stomach and intestines can recover from the procedures. In general, patients with Osler disease undergo regular checkups with various specialists to monitor the condition of vasodilatations of internal organs.
Outlook and prognosis
Osler disease is an incurable genetic disorder. The prognosis is based on the type of disease and the particular symptoms and complaints. Symptomatic treatment reduces typical symptoms such as pain and skin lesions and allows sufferers to live relatively symptom-free lives. Regular medical check-ups serve to detect and treat complications at an early stage. Only pulmonary arterial venous malformations are problematic, which can cause life-threatening bleeding with advancing age and in pregnant women. In addition, because of the risk of air emboli, diving with compressed air cylinders is not allowed in patients with Osler disease, insofar as short occlusions have been diagnosed in the lungs. The outlook and prognosis of Osler’s disease depend on the course of the disease and the individual symptom picture. A wide variety of courses are possible, ranging from barely noticeable limitations to severe complications. In individual cases, liver transplantation is necessary, which is associated with severe limitations for the affected person. Life expectancy with HHT type 1 is shorter if the condition is left untreated or if there are short occlusions in the lungs and brain. Patients with HHT type 2 have a normal life expectancy with appropriate treatment.
Prevention
There are no preventive measures for the inherited disease Osler disease. If this genetic defect is present, various measures can be taken to counteract the development of complications. For example, affected individuals should avoid alcohol, nicotine, stress, and heavy physical and bending exertion. The diet should be a conscious one. Plenty of salad, little meat and avoidance of acidic berries are advisable.
This is what you can do yourself
With Osler 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. Among other things, cooling and rest are helpful against the typical nosebleed. Since the walls of the blood vessels are particularly sensitive, violent impact of any kind should be avoided. If anemia occurs as a result of the bleeding, the doctor must be informed in any case. In mild cases, the deficiency symptoms can be reduced by changing the diet. In any case, affected persons must drink plenty of water or spritzers and eat a balanced diet. Since the typical symptoms of Ossler’s disease usually appear during puberty, therapeutic support is advisable. Attending a self-help group can help sufferers to better accept the disease. In general, sufferers need comprehensive support from specialists and psychologists. Relatives should watch out for unusual symptoms and, if in doubt, call the emergency services. Especially in the later stages of the disease, support from close relatives is important. Accompanying this, close monitoring by the physician is always necessary.
