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Diagnosed with Hereditary hemorrhagic telangiectasia. Need information on this disease

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ENT Specialist
Practicing since : 2001
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Hi my sister has been diagnosed of hht...I would like to know more about this disease
Posted Mon, 16 Apr 2012 in Ear, Nose and Throat Problems
Answered by Dr. Naveen Kumar 3 hours later

Thanks for the query

Hereditary hemorrhagic telangiectasia (HHT) also known as Osler-Weber-Rendu disease is a genetic disorder (with chromosomal abnormalities) that leads to abnormal blood vessel formation in the skin, mucous membranes (particularly that of the nasopharynx - the area behind the nose), central nervous system (brain and the spinal cord), lung, liver, and spleen, as well as the urinary and GI tracts.

It is inherited in an autosomal dominant pattern (genetic disorder) with a positive family history, which means one copy of the altered gene in each cell is replicated to cause the disorder.

The presence of multiorgan involvement of arteriovenous malformations and the associated hemorrhage is considered to be the major cause of morbidity and mortality.

The symptoms are usually noticed above the fourth decade of life and seldom seen in younger age groups. The most common manifestation is the bleeding from the nose and gastrointestinal tract. Bleeding is due to malformation of the blood vessels known as Telangiectasia (small dilated blood vessels near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter).

There is no cure for HHT. Treatment is symptomatic and supportive and controlling of the bleeding, either through surgery or medication. Currently, no laboratory studies are widely available to confirm the diagnosis, but with appropriate screening and aggressive management, life expectancy can be similar to that of the normal population.

Hope I have answered your query; I will be available for the follow-up queries.

Dr. Naveen Kumar N.
ENT and Head & Neck Surgeon
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