{Reference Type}: Case Reports
{Title}: To Test or Not to Test: A Case Report on Hereditary Hemorrhagic Telangiectasia.
{Author}: Chadalavada B;Baddam R;
{Journal}: Cureus
{Volume}: 16
{Issue}: 2
{Year}: 2024 Feb
暂无{DOI}: 10.7759/cureus.55118
{Abstract}: A 50-year-old female patient presenting with joint pains, Raynaud's phenomenon, epistaxis, and telangiectasias was posed with a diagnostic conundrum, i.e., whether to accept the diagnosis of mixed connective tissue disease (MCTD), for which she fulfilled all the criteria, or test for another probable disease, namely hereditary hemorrhagic telangiectasia (HHT), even though only some clinical features were present and all diagnostic criteria were not satisfied. Taking the patient's onset of epistaxis as an important clue, the patient was counseled for genetic testing for HHT, which was positive. Treatment for both MCTD and HHT is underway, and appropriate surveillance is planned for the patient.