Hereditary haemorrhagic telangiectasia (HHT)
Hereditary haemorrhagic telangiectasia, also known as Osler-Weber-Rendu syndrome, is a genetic condition that affects blood vessels, leading to abnormal blood vessel formation. This disorder can cause a range of symptoms, including frequent nosebleeds, small red or purple spots on the skin and mucous membranes, and potential complications such as gastrointestinal bleeding or arteriovenous malformations in organs like the lungs or brain.
The condition is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene from an affected parent can lead to the syndrome in their child. The underlying cause is usually a mutation in one of several genes involved in blood vessel development.
Management of hereditary haemorrhagic telangiectasia focuses on relieving symptoms and preventing complications. This may include regular monitoring for bleeding, treatment of nosebleeds through cauterisation, and, in some cases, surgical interventions to manage arteriovenous malformations. Patients are also advised to avoid activities that could increase the risk of bleeding and may benefit from genetic counselling to understand their risks and family planning options.