Hereditary hemorrhagic telangiectasia

Definition hemorrhagic telangiectasia is an inherited disease which results in the formation of abnormal blood vessels known as arteriovenous malformations in different areas of the body including the mucous membranes, skin and in organs such as the liver, lung and brain. When growing on the skin, these blood vessels can be referred to as telangiectasias.

The disease is also known as the Osler-Weber-Rendu syndrome and Osler-Weber-Rendu Disease.

Treatment

The treatment mainly focuses on the treatment of the symptoms of the disease rather than itself, since it is not possible to cure the syndrome. Mild cases of HHT in general do not need any treatment. But in moderate and severe cases, timely treatment is necessary to prevent several serious health problems such as a stroke resulting from AVMs in the lung.

There are several treatment options for the management of different symptoms:

Acute bleeding can be treated with blood transfusions and other attempts to stop the flow of blood.

Laser coagulation therapy can also be used for the treatment of nosebleeds.

Another treatment used for severe epistaxis is dermoplasty septal or skin graft of the nasal septum.

Skin lesions resulting from the syndrome can be cured with surgery or dye laser cauterization. This procedure is generally carried out by a dermatologist.

Iron substitution therapy is useful for the treatment of anemia resulting from gastrointestinal bleeding. A doctor may consider endoscopic treatments and blood transfusion in case of replacement of iron does not relieve the symptoms.

MAV brain and some other body parts can be treated with endovascular embolization.

Estrogen therapy can successfully reduce bleeding episodes in some patients.

Or intracranial stereotactic radiosurgery liver transplant may be needed in severe cases.

Sometimes surgery is needed to stop the bleeding in certain areas.

Prevention

Couples who have a family history of HHT should consider genetic counseling before having a child, as it helps to assess the chances of the baby being born with the disease. You can not avoid it, when caused by new genetic mutations due to unknown etiology. The stroke and heart failure caused by arteriovenous malformations can be prevented by proper medical treatment.