Gaby+L.

Also known as: Osler-Weber-Rendu Syndrome

Mode of Inheritance
=== Hereditary Hemorrhagic Telangiectasia (HHT) is a chrosomal mutation that causes deformity of blood vessels. These abnomalities are quite small, but that changes a lot. Somebody with HHT has inherited it from one parent that has the disease. HTT is an autosomal dominant abnormality (this means that only one abnormal copy of the gene is necessary to inherit the disease.) It is a gene mutation, that causes the lost of capillary network connection with many organs. ===

Clinical Description of Disorder
===The symptoms of this disease are quite mild. Due to the lack of network (mentiones above), the nose, the lungs and even the brain are affected. Most symptoms are nosebleeds, but also some red spots in the skin may pop up (telangiectasia: "red pigmentation spots"). Some extreme complications of this disease may be stroke, seizures, lack of breath, and low oxygen levels.===

To diagnose this disease, the patient must 2 out of the 4 "requisites" for HHT. The 4 are:
===1. Red Pigmentation Spots (Telangiectasias) 2. Small Blood Vessels (Also called Arteriovenous Malformation, AVM) 3. Constant Nosebleeds. 4. Last, but most importantly, family history. AVM's are usually present at birth, so most commonly if the patient has AVM, they will have HHT. ===

Treatment
=== To check for this disease, a screening must be done, testing for AVM. Also, a genetic test is done to confirm the HHT. This helps other family members know about the possibility of them having HHT too. The patient and at least another family member must take the genetic test. Since this disease is inherited (can be passed from parent to child through DNA) its better to have a __parent__ to take the test also. There are some on-going tests right now, for example, scientists are now trying to find a way to cure this disease by fixing the abnormal gene. Also, some physicians at universities are trying to come up with better treatments and therapies for the people being affected by HHT. Lung and Brain AVM's are the only other diseases connected with HHT. ===



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//**Sources**// "Hereditary Hemorrhagic Telangiectasia." HHT Foundation International. 31 March 2009. [] "Hereditary Hemorrhagic Telangiectasia." Guttmacher, Alan E, MD. and Jamie McDonald, MS. 3 April 2009. [] "Treating HTT at UCSD's Hereditary Hemorrhagic Telangiectasia." UC San Diego. Medical Center. 7 April 2009. [] "NEJM -- Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)." The New England Journal of Medicine. 7 April 2009. [] "The New York Times." The New York Times Company. 7 April 2009. [] "The Mayo Clinic." Mayo Foundation for Medical Education and Research. 7 April 2009. []