Forms and Documents
- Confirmation of a clinical diagnosis in symptomatic individuals
- Identification of individuals at-risk for developing the disease
- Recurrence risk assessment
- Deletion/Duplication Analysis
- Next-Gen Sequencing
Hereditary hemorrhagic telangiectasia (HHT) affects 1 in 5,000 –10,000 individuals. It is a vascular disorder characterized by telangiectasias, arteriovenous malformations (AVMs), and recurrent nose bleeds (epistaxis). Telangiectasias are commonly detected on the buccal mucosa, tongue, lips, face, fingers, and chest, while AVMs are often found in the lung, liver, or brain. Diagnostic criteria, called the Curacao criteria, have been established for HHT. Diagnosis requires the presence of at least three of the following: epistaxis, telangietasias, a visceral lesion, and family history of HHT in a first degree relative. HHT is often diagnosed in adolescence or adulthood. However, cases of severely affected infants have been reported. Clinical features and age of onset of HHT may vary considerably, even within a family.