Hereditary Haemorrahagic Telangiectasia

Overview

Hereditary haemorrhagic telangiectasia (HHT) is an inherited condition that affects blood vessels. It is also called Osler-Weber-Rendu syndrome. In HHT, some small blood vessels near the skin and inside the body become fragile and can bleed easily. It can also cause tangles of blood vessels, called arteriovenous malformations (AVMs), in organs such as the lungs, brain, or liver. HHT is passed down in families. It is not caused by anything you did.

HHT is uncommon. It affects about 1 in 5,000 to 1 in 8,000 people worldwide.

HHT affects men and women equally and can affect people of all ethnic backgrounds. Symptoms can start at any age, but nosebleeds often begin in childhood. Many people are diagnosed after a family member is found to have HHT.

Symptoms

Common symptoms

• Frequent nosebleeds, sometimes starting in childhood
• Small red or purple spots on the lips, tongue, face, fingertips, or inside the nose and mouth
• Bleeding from the gut, which may show as black or tarry stools
• Low iron levels or anaemia, causing tiredness and pale skin
• Shortness of breath or feeling very tired
• Sometimes headaches or other symptoms depending on where AVMs are

Symptoms in children

• Nosebleeds may be the first sign
• Small red spots may appear later
• Most children with HHT are healthy, but they need regular check-ups
• Serious complications are uncommon in childhood but can happen

Symptoms in older adults

• Nosebleeds may become more frequent or harder to stop
• Bleeding from the gut is more common and can cause anaemia
• Problems from AVMs in the lungs, brain, or liver may appear
• Regular screening becomes especially important

Causes

Main causes

• HHT is caused by changes in certain genes that control blood vessel growth
• It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene from one parent is enough to cause HHT
• If a parent has HHT, each child has a 50% chance of inheriting it

Risk factors

• Having a parent, sibling, or child with HHT
• A family history of frequent nosebleeds or bleeding problems
• Some people with HHT have a gene change but no symptoms, so family testing matters

When to see a doctor

See a doctor urgently if:

• You have bleeding that is heavy or not stopping
• You feel very tired, short of breath, or dizzy
• You notice new weakness, numbness, confusion, or trouble speaking
• You have a severe headache that comes on suddenly

Book a routine appointment if:

• You have frequent nosebleeds or nosebleeds that are hard to control
• You notice small red spots on your skin or in your mouth
• You have a family member with HHT
• You feel tired or pale and think you may be anaemic
• You are planning a pregnancy and have HHT

Diagnosis

Doctors diagnose HHT by asking about your symptoms and family history, examining your skin, mouth, and nose, and sometimes using genetic testing. They may use a set of checks called the Curaçao criteria. These look at nosebleeds, red spots, family history, and AVMs. You may be referred to a specialist centre.

Tests that may be done

• Blood tests to check for anaemia
• Genetic testing (a blood or saliva test) to look for gene changes
• Imaging scans such as MRI or CT to check for AVMs in the brain, lungs, or liver
• A special ultrasound of the heart (bubble study) to look for lung AVMs
• Endoscopy to look inside the gut if bleeding is suspected
• Physical examination of the skin, mouth, and nose

What to expect at your appointment

You may have several appointments. A specialist will explain the tests and what they are looking for. Genetic counselling can help you understand the chance of passing HHT on to children. Screening for AVMs is usually repeated every few years, depending on your age and results.

Treatment

There is no cure for HHT, but good care can control symptoms and lower the risk of serious problems. Treatment is tailored to your symptoms and the organs involved. Most people are cared for by a specialist team.

Self-care at home

• Learn first aid for nosebleeds: sit up, lean forward, pinch the soft part of your nose for 10 to 15 minutes, and breathe through your mouth
• Keep the inside of your nose moist with a humidifier or a doctor-recommended saline product
• Avoid picking or blowing your nose hard
• Avoid straining when going to the toilet
• Use sunscreen and protect your skin
• Keep your mouth and teeth healthy with regular dental checks
• Carry a nosebleed first-aid kit and know your emergency signs

Medical treatments

Doctors may use treatments to stop bleeding, such as cautery (heat treatment) or laser therapy. For larger abnormal blood vessels, a procedure called embolization can block them off. Some people need medicines to help with anaemia or to reduce bleeding; your specialist will decide if this is right for you. You may also need treatment for lung, brain, or liver AVMs.

When is surgery considered?

Surgery may be needed if an AVM is large, dangerous, or causing serious problems, or if bleeding cannot be controlled with other treatments. Your specialist team will discuss the benefits and risks with you.

Living with this condition

Day to day, HHT mostly means managing nosebleeds and keeping up with appointments. Many people carry supplies for nosebleeds and learn to act quickly. Knowing the warning signs of serious bleeding helps you get help fast. It is also important to tell your dentist and other doctors that you have HHT.

Lifestyle tips

• Avoid things that trigger nosebleeds, such as dry air, nose picking, and very hot or spicy foods if they affect you
• Stay hydrated
• Do not smoke, and avoid second-hand smoke
• Talk to your doctor before taking any medicine that can affect bleeding
• Use soft toothbrushes and gentle dental care
• Wear a medical alert bracelet if your doctor advises it

Diet and exercise

Eat a balanced diet with enough iron-rich foods if your doctor advises. Regular gentle exercise is good for most people. If you have AVMs in the lungs or brain, ask your doctor about safe activities and whether to avoid contact sports or heavy lifting.

Mental health and emotional wellbeing

Living with a genetic condition can feel worrying. You may have concerns about nosebleeds, passing HHT to children, or tests. It is normal to feel anxious or sad sometimes. Talking to your doctor, a counsellor, or a support group can help. If you feel overwhelmed or have thoughts of harming yourself, contact your local crisis service or emergency services right away.

Prevention

You cannot prevent HHT because it is inherited. But you can prevent complications by having regular check-ups, screening, and treatment when needed. This is why family testing is important.

Vaccines

Keep up with routine vaccinations as advised by your doctor. Some people with lung AVMs may need extra vaccines to lower the risk of infection. Ask your GP or specialist.

Screening programmes

Regular screening for AVMs and anaemia is recommended. Screening may include scans of the brain, lungs, and liver, and blood tests. Children and adults in families with HHT may be offered testing. Your specialist will advise how often you need checks.

Complications

If left untreated

• Severe anaemia from ongoing bleeding
• Stroke or brain abscess from brain AVMs
• Bleeding in the lungs or liver problems
• Heart failure from liver AVMs
• Serious bleeding that can be life-threatening

Long-term outlook

With regular monitoring and treatment, most people with HHT can live full lives. Some people need ongoing treatment for bleeding or AVMs. Early diagnosis and good follow-up make a real difference. Your healthcare team is there to help you manage HHT.

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