Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that causes abnormalities of blood vessels, usually resulting in excessive bleeding (known as hemorrhaging).
About 13 percent of people with HHT have at least mildly elevated pulmonary artery pressures, which can be caused in primarily two very different ways: high output heart failure or through a gene mutation that causes HHT-associated pulmonary arterial hypertension.
It often is difficult to detect pulmonary hypertension in HHT patients. In fact, some of the symptoms of PH (fatigue and difficulty breathing, and especially with physical exertion) often are found in people with HHT due to other health conditions, including heart failure, anemia and liver problems. Therefore, a doctor must strongly suspect PH in many cases or it may go overlooked. There are also cases where PH is diagnosed first before a person realizes they have HHT. One screening test for PH involves measuring blood flow in the lungs through an echocardiogram.
Download the Pulmonary Hypertension Association (PHA)’s free patient brochure to learn more about PH risks and treatment options.