Hereditary haemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia is a genetic condition causing abnormal blood vessel formation, leading to small, fragile blood vessel malformations (telangiectasia) on the skin and mucous membranes, and sometimes larger abnormal connections (arteriovenous malformations) in organs such as the lungs, liver, or brain. It commonly causes recurrent nosebleeds as the most typical early symptom. It requires specific screening to identify and manage internal organ involvement.

It is caused by inherited mutations in genes involved in blood vessel development, most commonly ENG or ACVRL1, following an autosomal dominant inheritance pattern, meaning each child of an affected parent has a 50% chance of inheriting the condition. The specific gene involved can influence the pattern and likelihood of different organ involvement. Genetic testing can confirm the diagnosis and identify the specific gene affected.

The most common and often earliest symptom is recurrent nosebleeds, sometimes starting in childhood. Small red or purple spots (telangiectasia) can appear on the skin and inside the mouth or nose. If larger arteriovenous malformations are present in the lungs, liver, or brain, they can cause symptoms specific to that organ, or sometimes remain silent until identified through screening.

While nosebleeds and skin lesions are usually more of a nuisance than dangerous, arteriovenous malformations in the lungs or brain can carry a risk of serious complications, including stroke or significant bleeding, if not identified and, where appropriate, treated. This is why specific screening for internal organ involvement is an important part of managing HHT, even in people without symptoms suggesting this involvement. With appropriate screening and treatment of any significant malformations found, most serious complications can be prevented.

Yes, it is an autosomal dominant genetic condition, meaning each child of an affected parent has a 50% chance of inheriting it. Genetic testing can confirm the diagnosis in someone with a family history, even before symptoms develop. Because of this inheritance pattern, family members of someone diagnosed with HHT are typically advised to consider testing and appropriate screening themselves.

Management includes specific screening for lung, liver, and brain arteriovenous malformations, since finding and, where appropriate, treating these can prevent serious complications. Nosebleeds are managed with various treatments ranging from simple measures to more specific procedures for severe or frequent bleeding. A specialist HHT centre coordinates this comprehensive screening and management approach, given the range of organs potentially involved.

There is no cure for the underlying genetic condition, but individual manifestations, such as significant arteriovenous malformations, can often be effectively treated, for example through minimally invasive procedures to block off abnormal blood vessels. Nosebleeds and skin lesions are managed symptomatically as they arise. Regular specialist follow-up and appropriate screening remain important throughout life to catch and manage new or growing malformations.

Simple recurrent nosebleeds are common in the general population and often relate to dry air, minor trauma, or nasal irritation without an underlying genetic cause. HHT should be suspected when recurrent nosebleeds occur alongside other features such as visible telangiectasia on the skin or in the mouth, or a family history of similar symptoms or known HHT. Specific clinical criteria and, where appropriate, genetic testing help distinguish HHT from more common, unrelated causes of nosebleeds.

See a doctor if you have recurrent nosebleeds alongside visible small red or purple skin spots, or a family history of HHT or similar symptoms. A private referral to an HHT specialist centre for assessment and appropriate screening can typically be arranged, though timing may depend on the specific service; ask your GP for guidance on the most appropriate route. Because internal organ involvement can be silent, family members of someone with confirmed HHT should also be considered for testing and screening even without symptoms themselves.