Which investigations are recommended to confirm a diagnosis of HHT in primary care?

Investigations recommended to confirm a diagnosis of hereditary hemorrhagic telangiectasia (HHT) in primary care:

• There are no specific UK primary care guidelines in the provided context directly addressing investigations for HHT diagnosis.

• However, diagnosis of HHT typically relies on clinical criteria (such as the Curaçao criteria) including family history, recurrent nosebleeds, mucocutaneous telangiectasia, and visceral arteriovenous malformations, which may prompt referral rather than primary care investigations.

• In primary care, initial assessment should focus on detailed history taking and physical examination to identify features suggestive of HHT, including recurrent epistaxis and family history of similar symptoms or complications.

• Where HHT is suspected, referral to specialist services for confirmatory investigations such as genetic testing, contrast echocardiography, or imaging (CT/MRI) of visceral organs is appropriate.

Summary: Primary care investigations to confirm HHT are limited; diagnosis is primarily clinical and referral for specialist assessment and investigations is recommended.