Morbus Osler

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Morbus Osler is a rare hereditary disease in which diseased blood vessels develop in different parts of the body. These vessels are very easily vulnerable, which leads to frequent bleeding, for example in the form of nosebleeds. Healing is not yet possible. However, various symptomatic treatment options allow most affected persons to live a largely normal life. Here you can read all important information about Osler’s disease.

Osler disease: description

The disease of Osler (Rendu-Osler-Weber syndrome) was named after its discoverers and is also referred to as hereditary hemorrhagic telangiectasia (HHT). Behind this concept, the main features of this disease are already hidden:

“Hereditary” means that it is an inherited disease. The term “hemorrhagic” derives from the Greek word “him” (blood) and “rhein Nai” (flow) and describes the bleeding occurring in Osler’s disease, such as nose bleeding, blood loss or gastrointestinal bleeding. The word “telangiectasia” also comes from the Greek: “telos” (wide), “anion” (vessel) and “ekstasis” (extension). Thus, the red dot-shaped skin appearances visible in the face are described. These are diseased extensions of the smallest blood vessels (capillaries).

There is no reliable data on the incidence of Osler’s disease. In the Deutsches Ärzteblatt, it is described that of 10,000 people is affected by this disease. This is a rare disease. In France, Denmark and Japan, Osler ‘s disease is more common.

 

Osler: Symptoms

The symptoms of Osler’s disease can be very different. The first symptom is usually strong and regularly recurring nose bleeding. It occurs as a rule before the age of 20. Later, the typical punctiform vascular dilatations (telangiectasia) appear on the face, fingers, and other body parts.

In addition, Osler’s disease affects the liver in 80% of patients, the gastrointestinal tract in 44%, the lung in 33%, and the brain in up to 15%. In most cases, short-circuit connections between arteries and veins develop. As a result, the blood flows from the arteries (high pressure) into the veins (low pressure), thus filling the veins excessively with blood. The veins are overloaded by the increased blood flow and a blood jam is formed in the veins. Depending on the affected organ, this venous blood accumulation can have different consequences.

Nose bleeds
Nasal bleeding is the typical symptom of Osler’s disease: Up to 90 percent of the patients experience spontaneous, severe and often-recurrent nasal bleeding during the course of the disease. There is no special trigger like an accident or fall. Nasal bleeding is usually one of the first symptoms of the disease, which usually occurs until the age of 20. In rare cases, it also manifests itself afterward.

Telangiectasia
This is understood as meaning extended capillary vessels. In the case of Osler’s disease, the telangiectasia appears as small, reddish, point-like spots on the skin. Since Osler’s disease is a systemic disease, they can occur in the body as a matter of principle. Particularly frequent localizations are the facial area (cheeks, lips, tongue, nose or ears) and the fingers (especially at the fingertips).

liver
The liver is also affected in about 80 percent of Osler’s patients. There are short-circuit connections between arteries and veins (shunts). In most cases, these vascular changes do not lead to symptoms. Rarely, however, a heart failure, a hypertension of the liver vein, or a calls tow may develop. The blood can be thrown back into the lungs (respiratory distress), liver (with symptoms of liver vein high pressure) or the legs (swollen legs, edema).

High blood pressure in the liver vein in Osler’s disease can lead to the circulatory circulation of blood vessels and bleed (bleeding). In addition, abdominal water (ascites) can form and the detoxification function of the liver can be impaired. It is also possible that the coagulation factors formed in the liver are produced only to a limited extent, which can lead to easier bleeding. A Gallestau is noticed by the fact that the skin and the eyes turn yellow. The skin itch often unpleasant. The stool may become discolored and the urine may appear brownish.

Gastrointestinal tract
In the gastrointestinal tract, telangiectasias may also be present in Osler’s disease. They usually develop with increasing age and may cause gastrointestinal bleeding. This makes possible a blackening of the stool (stool) or blood staining of the stool. Repeated severe bleeding can cause a blood glut (anemia).

lung
Short-circuit connections between the arterial and venous blood vessel systems in the lung are usually larger and are referred to as so-called pulmonary arteriovenous malformations (PAVM). They occur in approximately one-third of the patients with Osler’s disease and can lead to blood tests.

In addition, there is an increased risk for so-called paradoxical embolisms in Osler’s disease. As a rule, thromboses (blood clots) form in the veins. If they dissolve and are swept as a so-called embolus in the blood stream, they usually pass over the right heart exclusively into the pulmonary vessels, where they can block the pulmonary vessels (pulmonary embolism). The embolus, however, does not reach further into the left heart, and therefore not into the arterial vessels. Organs that receive arterial blood from the left heart are therefore not normally affected by such emboli.

Central nerve system
Symptoms of the central nervous system are usually caused by short-circuiting connections in the lungs in Osler’s disease. Abducted material from the lung veins can lead to bacterial pus accumulation or a stroke. However, short-circuit connections between arteries and veins can also be present directly in the brain in Osler’s disease. They usually lead to headaches, seizures, and bleeding.

 

Osler’s Disease: Causes and Risk Factors

Osler’s disease is due to a gene change, which can be inherited without gender. This means that if a parent suffers from Osler’s disease, there is a 50% chance that the child will also have the genetic predisposition to Osler’s disease. In all cases, a gene carrier does not have any disease symptoms (incomplete penetrance).

 

Osler’s Disease: Investigations and Diagnosis

If a patient suffers from symptoms of Osler’s disease, the doctor must check the so-called Curaḉao criteria. These are four typical criteria for Osler’s disease. For the diagnosis of Osler’s disease to be reliable, at least three of these criteria must be met. If only two of the criteria are positive, then only the suspicion of the disease suggests, so that further investigations are necessary. If only one criterion applies, there is most likely no Osler disease.

1) nose bleeds
In patients with Osler disease, sufferers suffer from recurring nasal bleeding, which occurs without a specific trigger (for example, a fall).

2) Telangiectasia
The physician checks whether red dot-shaped vessel dilatations are present on the lips, mouth, nose and fingers. Characteristic of the telangiectasia in Osler’s disease is that they disappear while pressing with a transparent object (e.g., glassy).

3) involvement of the internal organs
In order to find out whether internal organs such as the lungs, the liver or the gastrointestinal tract are affected, various tests may be necessary: ​​If the physician has an anemia which is caused by obvious or unnoticed blood loss (for example by bleeding from the intestine) Due to Osler’s disease, he takes blood. The hemoglobin (Hb) is determined in the blood, which is too low for anemia. In order to recognize vessel dilatations in the gastrointestinal tract, gastrointestinal and bowel obstruction are necessary. Vascular lesions in the liver can be diagnosed by ultrasound (sonography). Changes in the lungs or brain can be presented in a computerized (CT) or magnetic resonance tomography (MRT). In order to better recognize the vessels, the partial contrast medium is injected into a vein before the examination.

4) Osler’s disease in kinship
If the disease is present in another first-degree family member (mother, father, sibling, children), this criterion is fulfilled.

Although the diagnosis of Osler’s disease is predominantly based on the Curaḉao criteria, a genetic diagnosis can now be made from a blood sample. It is mainly performed in people with a stronger disease manifestation with lung involvement, or when a typical gene change occurs in affected family members.

Osler disease: treatment

The two main problems in Osler’s disease are, on the one hand, the morbidly dilated vessels from which it can regularly bleed. On the other hand, short-circuit connections (anastomoses) in internal organs can damage the organ function of the affected organs (especially the lungs and liver) and lead to severe bleeding. Therefore, the treatment targets include, above all, the obliteration of potential sources of bleeding (especially the nose) and, if necessary, the elimination of vascular occlusions (for example in the lungs) with surgical techniques. Various drugs supplement these measures.

Treatment of nasal bleeding
The frequent nasal bleeding is particularly burdensome for those affected. The following measures are used in Osler’s disease:

Nasal ointments and nasal ampoule

Nasal ointments can be used to prevent frequent nasal bleeding in Osler’s disease. They moisturize the nasal mucosa and reduce the risk of tearing and bleeding. In acute, severe bleeding a nasal tamponade may be necessary. A tamponade is a filler that is plugged into the nasal hole and thus softens the bleeding. It can consist of different materials, but it should be easy to get rid of the nasal mucosa. In the pharmacy, tampons specially developed for nasal bleeding are available.

Coagulation

If nasal bleeding can not be adequately treated by ointments and tamponades, dilated blood vessels in the nose can be destroyed with a laser or electrical method. However, the nasal septum can be injured, which in turn can lead to severe bleeding.

Skin transplantation

If the nasal wall is almost completely replaced with the vessel dilatations typical of Osler’s disease, a skin transplant can be carried out. First, the nasal mucosa is removed and then replaced with skin from the thigh or with oral mucosa. With this method, nose bleeding disappears relatively reliably. However, a dry nose with barks and crusts and also a smell loss can occur.

Operational nose closure

If the symptoms are extremely severe, the nose can be completely closed. As a result, there is no more nose bleeding. However, sufferers must breathe through their mouths throughout their lives. This method is mainly used in people with Osler’s disease who need to take blood-thinning medications and can not breastfeed a bleeding.

Medicines

Patients suffering from Osler’s disease under ever-recurring nasal bleeding may also benefit from a drug therapy. For this purpose, for example, the active ingredient tranexamic acid, which is orally taken in the form of tablets, is considered. Tranexamic acid prevents the blood clots arising during blood clotting to be dissolved again.

Treatment of liver symptoms
In Osler’s disease, liver involvement should be treated as long as possible by medication alone in order to avoid surgical interventions due to the high risk of bleeding. In this case, for example, an existing blood pressure in the portal vein can be lowered with beta blockers. Further treatment options depend on the individual symptoms. An endoscopic closure of the modified renal vessels or, in extreme cases, a liver transplant are associated with high risks and should therefore not occur in Osler’s disease.

Treatment of gastrointestinal tract symptoms
If telangiectasia in the gastrointestinal area leads to a blood glut (anemia), iron should be replaced by a capsule preparation or via an infusion. In rare cases, blood transfusions are necessary to treat anemia. If dilated or bleeding vessels are found in bowel transplantation, these can become degenerated during the reflexion.

There is also evidence that treatment with female sex hormones (estrogens and gestagens) improves blood stagnation in the gastrointestinal tract. These hormones stimulate the formation of coagulation factors in the liver that is responsible for blood clotting. When the coagulation factors circulate more in the blood, this improves the body’s blood stagnation. However, this therapy option can only be used for menopause patients from Osler.

Treatment of pulmonary symptoms
If there are pronounced vascular occlusions (anastomoses) in the lungs in the case of Osler’s disease, these can be occluded in a catheter examination. For this purpose, the thigh artery is found in the groin. With a small tube (catheter), the physician can then penetrate the vascular system up to the corresponding vascular lesion. This is closed by a small wire spiral or a balloon. This does not affect the blood supply to the lungs.

Treatment of the symptoms of the central nervous system
When blood vessels in the brain are altered, these can be treated with neurosurgical measures. Possible treatment options should be taken with neurologists, neurosurgeons, and radiologists and are always individual.

 

Osler disease: disease history and prognosis

Since Osler’s disease is a genetic disease, healing is not possible in a narrow sense. The presented symptomatic treatment measures, however, enable a majority of people suffering from Osler’s disease to have a largely normal life. Patients with a known short-circuit connection in the lungs should only do without dipping with compressed air bottles since they are more likely to produce life-threatening air bubbles.

Regular medical examinations are often used to quickly identify and treat possible complications when the internal organs are involved before they cause discomfort. Pulmonary arterial venous malformations can increase with age and during pregnancy, leading to serious problems resulting from bleeding.

Overall, disease prognosis and prognosis are not the same for all Osler patients. The range of possible complaints ranges from only slight restrictions to life-threatening complications as a result of Osler’s disease.

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