Hereditary hemorrhagic telangiectasia or HHT, from the English abbreviation, is an inherited genetic disease. It affects about 1 in 10,000 individuals and affects mainly blood vessels. Unfortunately the diagnosis is often difficult, due to the variety of symptoms.

The disease affects only a small part of the blood vessels, but with devastating consequences. Defective arteries enter the venous circuit directly, without capillaries acting as intermediaries. The pressure of the arterial blood is therefore excessive for the vein walls, which are gradually damaged. In the long run they break, causing a hemorrhage that can affect tissues or mucous membranes.

Hereditary hemorrhagic telangiectasia mainly affects skin, mucous membranes of the nose and mouth, stomach, intestine, liver, lungs and brain. Depending on the veins affected, the disease can manifest itself in different ways. The most obvious symptom is bleeding, but bleeding is not always visible from the outside. In some cases, the veins form fistulas that rarely bleed and are therefore more difficult to detect.

Each patient has different symptoms, which makes the diagnosis difficult. We are working on a genetic test, but today the diagnosis is mainly based on clinical observations. The criteria used are:

• Recurrent nose blood;
• Dilation of blood vessels on the lips, in the oral cavity and in the nose;
• Fistulas in internal organs;
• Familiarity.

For the moment it is not possible to avoid vascular lesions, so there is no definitive therapy. However, it is possible to cure most vascular lesions. As for epistaxis, they are largely avoidable with a good humidification of the domestic environment.

Source: hht.it