Osler's disease
Synonyms in the broadest sense
Osler's disease; Osler Syndrome; Telangiectasia disease; Rendu-Osler disease, hemangiomas
definition
Of the Osler's disease is an inherited disease of the blood vessels. Two internists (Dr. Osler from Canada and Dr. Rendu from France) first described this disease at the end of the 19th century and gave it the name "Osler's disease". Typical are enlargements of small vessels with a tendency to burst. Bleeding on the skin, mucous membranes and internal organs as well as visible ones Vascular clusters (Hemangiomas, Telangiectasias) are among the main symptoms. Most often it is difficult to breastfeed Epistaxis.
A causal treatment of Osler's disease is unfortunately not yet possible because it is a genetic defect acts. Adequate symptomatic therapy, however, promises success.
root cause
Osler's disease is a rare one autosomal dominants Illness. Anyone who has been diagnosed with this condition probably knows a parent who is suffering from the same symptoms. The molecular cause of Osler's disease lies in a defect in two important genes (endoglin and ALK-1), which are responsible for the production of vessel-stabilizing substances (proteins for the inner lining of the vessels).
If these substances are missing because the "template“(= Genes) are defective, they are Vessels unstable and rupture more quickly. One can speak of luck in unhappiness, since only the smallest vessels (= capillaries) are affected by Osler's disease and there would never be acutely life-threatening vascular ruptures.
Symptoms of Osler's disease
The first symptoms of Osler's disease usually appear as more frequent Epistaxis. The bleeding happens suddenly and is difficult to stop. Sudden bleeding can also occur in other parts of the body, but preferably in the Mucous membranes of the nose, mouth and also to the internal organs. In some cases there may be bleeding in the stomach or Intestines come. If bleeding occurs here, it is unfortunately only noticed late and shows complications due to increased blood loss (Anemia; anemia). In a few cases there is bleeding in the lung or that brain occurred. This can lead to a bloody cough or to Headache symptoms come.
The easily bleeding vessels are very thin, tear quickly and also form short circuits between veins and arteries (arteriovenous malformations; malformations). Such short circuits look like pinhead large vesicles (hemangiomas, telangieectasias) and are painless. The vascular changes first appear in early adulthood and persist from then on. In middle age, the likelihood of developing further vascular clusters (telangiectasias) increases with Osler's disease, now also on the fingers and fingertips.
diagnosis
The typical combination of increased and difficult to stop nosebleeds with visible telangiectasias on the nasal and oral mucosa suggest the suspicion of Osler's disease. In addition, due to the inheritance of this disease, a similar case is usually known within the family. An ultrasound is performed to check whether more dangerous vascular malformations or bleeding can be found in the internal organs. In the case of suspicious findings, computed tomography and endoscopy of the gastrointestinal tract can provide sharper images and make possible blood sponges (hemangiomas) easier to identify. If there are still doubts about a clear diagnosis, molecular diagnostics can now be arranged using a complicated and expensive blood test.
therapy
The treatment of Osler's disease is purely symptomatic, i.e. the complaints that arise are specifically treated. Acute nosebleeds can be remedied by tamponades, chemical burns or obliteration of the bleeding site. It is recommended to protect the nasal mucosa with ointments and oils. In addition, excessive pressure build-up in the nasal vessels caused by blowing the nose too hard and bending over for a long time should be avoided.
If the bleeding occurs unbearably frequently in the same place, a skin displacement (dermoplasty) may be indicated. Here, healthy skin is planted from a separate part of the body onto the sick person.
Also bleeding on Gastrointestinal tract are stopped on site by means of an endoscopy in the event of acute bleeding. If a section of the intestine tends to bleed frequently, it can be surgically removed.
In this case, anemia can be prevented by giving iron supplements.
In general, every patient with Osler's disease is recommended to follow a healthy lifestyle:
Note: Behavior at M. Osler
Alcohol and nicotine should be avoided at all costs. Stress, stooping activities and dangerous sports increase the likelihood of spontaneous bleeding of the mucous membranes.
Complications
Nosebleed difficult to stop
Almost all patients with Osler's disease have nosebleeds. It occurs more frequently in adolescence and can cause considerable problems. The fear before a sudden nosebleed, restricts leisure activities.
Bleeding in the gastrointestinal tract
Bleeding from the gastrointestinal tract occurs in less than half of patients with Osler's disease. Such bleeding usually only occurs in adulthood. If the stool is very black (tarry stool) or if blood deposits are noticed on the stool, this is a sure sign of bleeding in the gastrointestinal tract.
Anemia
As a result of the constant and increased blood loss, anemia can occur in Osler's disease. The body cannot compensate for the loss so quickly and reacts with general exhaustion, tiredness, lack of concentration and general paleness.
Rare organ bleeding
In principle, all organs can have brittle vessels and are prone to spontaneous bleeding. Bleeding from the brain, with the worst case scenario stroke (Insult; apoplexy) occur rarely. Should the Kidneys will be affected, a bloody urine noticed. If the lungs are bleeding from the lungs, there may be a bloody cough. In rare cases, vascular short-circuits due to Osler's disease can also occur in the area of the conjunctiva, which is bloodshot eye cause.
