Hereditary Hemorrhagic Telangiectasia is a rare genetic disorder that leads to abnormal blood vessel formation in the mucous membranes, skin and in organs such as brain, liver and lungs. Hereditary Hemorrhagic Telangiectasia, also known as Osler-Weber-Rendu disease, may lead to nosebleeds, acute and chronic digestive tract bleeding and various problems due to the involvement of other organs. Its symptoms consist of itching, red marks or patterns on the skin, frequent nosebleed, shortness of breath, small strokes and seizures.
HOW IS HEREDITARY HEMORRHAGIC TELANGIECTASIA DIAGNOSED?
Being a rare disorder, the diagnostic tools are also limited for Hereditary Hemorrhagic Telangiectasia. However, Genetic Testing Registry (GTR) is one process used by the General Physician to get focused results of the particular genetic disorder to help in formulating the treatment.
HOW IS HEREDITARY HEMORRHAGIC TELANGIECTASIA TREATED?
The treatment for Hereditary Hemorrhagic Telangiectasia, especially if nosebleed continues, is coagulation therapy. Some doctors prefer to try different types of the treatment including the use of laser. There are also surgical procedures available to the doctors to remedy the condition in cases where the response to other treatments is slow or ineffective.
DID YOU KNOW?
A genetic counsellor may discuss the option of genetic testing for confirming diagnosis.