Diagnosis
The typical combination of increased and difficult to stop nosebleeds with visible telangiectasia of the nasal and oral mucosa suggests the suspicion of Osler’s disease. Moreover, due to the hereditary nature of this disease, a similar case is usually already known within the family. An ultrasound scan is performed to check whether more dangerous vascular malformations or bleeding in the internal organs can be found. In case of suspicious findings, a computer tomography and an endoscopy of the gastrointestinal tract can provide sharper images and allow a better recognition of possible haemangiomas. Should there still be doubts about a clear diagnosis, molecular diagnostics can nowadays be initiated on the basis of a complicated and expensive blood test.
Therapy
The treatment of Osler’s disease is purely symptomatic, i.e. the symptoms that occur are treated specifically. Nosebleeds can be treated acutely by tamponades, burns or sclerotherapy of the bleeding site. It is recommended to protect the nasal mucosa with ointments and oils.
In addition, the build-up of pressure in the nasal vessels by blowing too hard and bending over the head for too long should be avoided at all costs. If bleeding occurs unbearably often at one and the same spot, a skin shift (dermoplasty) may be indicated. In this procedure, healthy skin is implanted from one part of the body onto the diseased one.
Bleeding in the gastrointestinal tract is also stopped by endoscopy in the case of acute bleeding on site. If a section of the intestine is prone to frequent bleeding, it can be removed surgically. In this case, anemia can be prevented by the administration of iron preparations.In general, every patient with Osler’s disease is advised to follow a healthy lifestyle:
Complications
Difficult to stop nosebleeds Almost all patients with Osler’s disease have nosebleeds. It occurs more frequently in adolescence and can cause considerable problems. The fear of a sudden nosebleed restricts leisure activities.
Bleeding in the gastrointestinal tract Less than half of patients with Osler’s disease suffer from bleeding in the gastrointestinal tract. In most cases, such bleeding does not occur until adulthood. If the stool is very black (tarry stools) or blood deposits are noticed on the stool, this is a sure sign of bleeding in the gastrointestinal tract.
Anemia As a result of the continuous and increased blood loss, anemia can occur in Osler’s disease. The body cannot compensate for the loss so quickly and reacts with general fatigue, tiredness, lack of concentration and general skin pallor. Rare organ bleeding In principle, all organs can have brittle vessels and have a tendency to spontaneous bleeding.
Bleeding in the brain, which in the worst case can be accompanied by a stroke (insult; apoplexy), is rare. If the kidneys are affected, bloody urine is noticed. Small bleedings in the lungs can lead to bloody coughing. In rare cases, vascular short-circuits caused by Osler’s disease can also occur in the area of the conjunctiva, causing a bloodshot eye.
