Key clinical features for diagnosing Hereditary Hemorrhagic Telangiectasia (HHT) include recurrent spontaneous epistaxis, mucocutaneous telangiectasia, and a family history of HHT. These features form the cornerstone of clinical suspicion and diagnosis NICE CG71. Recurrent nosebleeds (epistaxis) typically begin in childhood or adolescence and are often the earliest and most common symptom. The presence of multiple telangiectases—small dilated blood vessels—on the lips, oral cavity, fingers, and face is characteristic NICE CG71. Visceral arteriovenous malformations (AVMs), particularly in the lungs, liver, and brain, are important clinical features that may present with complications such as hypoxemia, stroke, or high-output cardiac failure. Screening for these AVMs is essential once HHT is suspected McDonald et al. 2011. Ophthalmic manifestations, including conjunctival telangiectasia and retinal vascular abnormalities, can also support the diagnosis but are less commonly emphasized in initial clinical assessment Abdolrahimzadeh et al. 2022. Genetic testing can confirm the diagnosis by identifying mutations in genes such as ENG, ACVRL1, or SMAD4, but clinical criteria remain primary for diagnosis in general practice NICE CG71.
In summary, the diagnosis of HHT relies on a combination of:
- Recurrent spontaneous epistaxis
- Mucocutaneous telangiectasia
- Visceral AVMs (lung, liver, brain)
- Family history of HHT
- Supportive ophthalmic findings
These features are integrated into clinical diagnostic criteria (e.g., Curaçao criteria) widely used in practice NICE CG71 McDonald et al. 2011.
Key References
- CG71 - Familial hypercholesterolaemia: identification and management
- NG121 - Intrapartum care for women with existing medical conditions or obstetric complications and their babies
- NG241 - Ovarian cancer: identifying and managing familial and genetic risk
- (Adam et al., 1993): Hereditary Hemorrhagic Telangiectasia.
- (McDonald et al., 2011): Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.
- (Abdolrahimzadeh et al., 2022): An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).