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ClinGen Actionability HHT

From SNPedia

This is a genotype with recommended actions if clinically confirmed. 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.

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