Rendu-Osler-Weber disease (congenital hemorrhagic angioma) is a hemorrhagic diathesis, i.e. bleeding tendency. Rendu-Osler-Weber disease is very serious as it can lead to bleeding in organs such as the lungs or the brain. What are the causes and symptoms of Rendu-Osler-Weber disease? What is the treatment?
Rendu-Osler-Weber disease , otherwisecongenital haemorrhagic hemorrhage(Hereditary Haemorrhagic Telangiectasia - HHT), is a genetically determined bleeding disorder, i.e. bleeding tendency. In the case of HHT, bleeding occurs both from the mucosa (including the nose, gastrointestinal tract, conjunctiva) and the skin, as well as within the abdominal organs (liver, urinary system), in the central nervous system, in the eyeball.
The incidence of the disease depends on the latitude and ranges from 1: 200 to 1: 100,000. HHT is most common among the inhabitants of the islands belonging to the Netherlands Antilles - Curacao and Bonaire, where the incidence of this disease is from 1: 200 to 1: 1331.
Rendu-Osler-Weber disease - causes
The cause of hereditary haemorrhagic hemorrhage is a disturbance in the structure of the vascular wall, as a result of which segmental dilatations of vessels (telangiectasias) and small veins are formed, most often in the mucosa of the nose, lips, mouth, tongue, esophagus, stomach, respiratory tract , urinary, anus and skin (fingertips).
The vascular structure is disturbed by a mutation in the gene responsible for the production of endoglin - a protein that builds the wall of blood vessels.
The disease is inherited in an autosomal dominant fashion, which means that it is enough to give a child only one copy of the gene responsible for the disease to develop symptoms of the disease.
Rendu-Osler-Weber disease - symptoms
A characteristic symptom of hereditary haemorrhagic hemorrhagic disease are nosebleeds, which may appear in childhood and intensify later in life. Bleeding from the gastrointestinal, respiratory and urinary tracts occurs much less frequently.
Vascular lesions on the skin or mucous membranes are usually flat, round, 1-3 mm in diameter, and red. Their number increases with age,accompanied by increased bleeding.
Rendu-Osler-Weber disease may be accompanied by other birth defects, e.g. polycystic kidney disease, aortic and cerebrovascular aneurysms, von Willebrand disease, haemophilia, platelet dysfunction and others.
Rendu-Osler-Weber disease - diagnosis
Diagnosis is made on the basis of physical examination and the finding of typical angioma or skin lesions.
If there is a suspicion that the angiomas may only occur in the respiratory tract or in the gastrointestinal tract, it is necessary to perform endoscopic examinations.
Rendu-Osler-Weber disease - treatment
The goal of treatment is the immediate stopping of bleeding and reducing its frequency. The therapy also includes the treatment of ischemic changes.
For example, in the case of the most common epistaxis, depending on the degree of bleeding, nasal tamponade, coagulation (argon, electrocoagulation, laser), embolization and ligation of the external carotid, maxillary and ethmoid arteries may be used. In extreme cases, when the bleeding is very intense, dermoplasty techniques ("replacement" of the nasal mucosa with a free skin flap) or sewing up the nasal cavity can be used. Patients may also require multiple blood transfusions.
Bibliography:
Mariańska B., Fabijańska-Mitek J., Windyga J.,Laboratory tests in hematology , Medical Publishing PZWL, Warsaw 2003
Skorek A., Stankiewicz C.,Problems in the diagnosis and treatment of Rendu-Osler-Weber disease , Otorynolaryngologia 2010, no. 9