Hereditary Haemorrhagic Telangiectasia: What the Condition Means for Patients

The New England Journal of Medicine posted the feature under its Images in Clinical Medicine series, covering hereditary haemorrhagic telangiectasia (HHT) — a genetic disorder in which blood vessels form without the small capillaries that normally sit between arteries and veins. The result is fragile, dilated vessels called telangiectasias that can bleed easily and occur in the skin, digestive tract, lungs, brain and liver.

HHT is inherited. A person with one affected parent has a 50% chance of carrying the gene variant. Because symptoms can vary widely between family members — even those carrying the same genetic change — the condition is often missed or mistaken for something else for years.

The most common sign is frequent nosebleeds that start in childhood and worsen with age. Small red or purple spots on the lips, tongue, fingertips and inside the mouth are another tell. Internal bleeding in the gut (gastrointestinal tract) can cause anaemia — a shortage of red blood cells — that leaves people exhausted and pale without any obvious external bleeding.

So if you or a family member have repeated unexplained nosebleeds alongside those characteristic skin spots, it’s worth raising HHT specifically with your GP rather than waiting for a referral to work its way through the system.

The journal’s coverage spans both haematology — the study of blood and blood disorders — and gastroenterology, the branch of medicine dealing with the digestive system, reflecting how widely the condition can affect the body.

There is no cure, but treatments exist to manage bleeding and monitor for complications in the lungs and brain. The NHS recommends that anyone with a confirmed diagnosis have their close relatives offered genetic testing and screening.

Anyone concerned about symptoms should contact their GP or call NHS 111.