Genetic Testing For Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia (HHT), or Osler-Weber-Rendu Disease, is a rare genetic disorder that causes abnormal blood vessels, impairing vascular function. Symptoms include frequent nosebleeds, skin lesions, gastrointestinal bleeding, and anemia. Diagnosis typically involves clinical evaluation, imaging studies, and genetic testing. Genetic testing is crucial for confirming HHT, identifying at-risk family members, guiding treatment, and informing family planning. By analyzing DNA for specific mutations, genetic testing helps manage the condition and prevent complications. Understanding HHT and its genetic basis is essential for effective diagnosis and care.

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