This is a genotype with recommended actions. In brief:
- Undergo an annual evaluation by a health care provider familiar with HHT, including interval history for epistaxis or other bleeding, shortness of breath or decreased exercise tolerance, and headache or other neurologic symptoms.
- For those prone to HHT-related nosebleeds: Humidify your nose or use ointments to reduce bleeding; avoid vigorous nose blowing, lifting of heavy objects, straining during bowel movements, and picking your nose; avoid scuba diving unless contrast echocardiography performed within the last five years was negative for a right to left shunt; be aware that the use of anticoagulation/antiplatelet drugs can increase bleeding.
- Get screened for cerebral and pulmonary arteriovenous malformations (PAVMs) using transthoracic contrast echocardiography (TTCE) every 5-10 years and within 5 years preceding a planned pregnancy.
- Those over 35 should have annual measurements of hemoglobin or hematocrit levels due to the increased risk of GI bleeding with age. Oral and/or intravenous iron supplementation is recommended as first-line therapy for mild anemia and chronic bleeding secondary to HHT-related telangiectasia.
- Consider diagnostic testing for all at risk family members and relatives, including asymptomatic children.
The full ClinGen Actionability report about hereditary hemorrhagic telangiectasia (HHT) can be found here.