The prevention of hereditary haemorrhagic telangiectasia (HHT) is not straightforward, since the condition is genetic and passed from parent to child. This means it cannot be stopped with vaccines, lifestyle changes, or diet. However, many steps can help prevent the serious effects of the disease. These include genetic counselling, family screening, early treatment, and regular health checks. These tools help reduce the risk of major health problems.
Genetic Counselling and Planning for Families
HHT happens due to changes in specific genes—ENG, ACVRL1, or SMAD4. That’s why genetic counselling is very important. A child of someone with HHT has a 50% chance of inheriting the condition, no matter their sex.
Couples who know they carry HHT may choose to:
- Get counselling before having children, to understand the risks
- Use IVF with embryo testing (PGD) to avoid passing on the gene
- Think about testing during pregnancy, though this raises personal and ethical questions
- Plan their family with full information and support
Genetic counselling gives families the facts they need. It helps them prepare for early checks if a child might have HHT.
Testing At-Risk Family Members Early
Once a gene change is found in one family member, close relatives (like children, siblings, or parents) can get tested too—even if they feel fine.
Early testing helps in many ways:
- Screening for AVMs in the brain, lungs, and liver
- Watching for nosebleeds or stomach bleeding
- Avoiding strokes, infections, or other serious events
- Starting treatment early for a better quality of life
Children can be tested from birth if the gene is known. This is especially helpful when brain or spinal AVMs might appear early in life.
Screening and Regular Health Checks
Even people with no symptoms should get checked for AVMs, which can form silently in key organs.
Common screening tests include:
a) Lung AVMs
- Bubble echo as the first step
- Chest CT scan if results are unclear
- Repeat tests every 5–10 years or sooner if symptoms change
b) Brain AVMs
- MRI or MRA once in childhood or early adulthood
- Extra scans only if symptoms appear (like seizures or stroke signs)
c) Liver AVMs
- Ultrasound or Doppler of the belly
- More detailed scans if there are signs of heart or liver issues
These checks help find problems early—before they lead to stroke, heart failure, or other dangers.
Preventing Bleeding From HHT
For those with HHT, it’s key to reduce bleeding from the nose, skin, or gut.
Helpful steps include:
- Using saltwater sprays and room humidifiers
- Avoiding nose picking or forceful blowing
- Taking iron to prevent low blood levels
- Limiting aspirin or anti-inflammatory drugs
- Treating low iron quickly to avoid fatigue and heart strain
ENT doctors may also use laser therapy or special nose sprays to control bleeding and avoid hospital stays.
Avoiding Infections and Clots
Lung AVMs can let germs or clots skip the lung filter and go straight to the brain. This can cause brain abscess or stroke. To prevent that:
- Take antibiotics before dental work or surgery if lung AVMs are present
- Avoid scuba diving or procedures where air might enter the veins
- Treat infections quickly to stop them from spreading to the brain
These steps are especially vital for children or adults with untreated AVMs in the lungs.
Planning a Safe Pregnancy
Pregnancy brings more blood flow and hormone changes, which may make AVMs worse.
To stay safe, women with HHT should:
- Get screened for brain and lung AVMs before getting pregnant
- Have care from a team that includes OBs, radiologists, and HHT experts
- Plan to give birth at a hospital with special resources if problems arise
With good planning and teamwork, most women with HHT can have safe pregnancies and healthy babies.
Preventing Emotional Stress and Isolation
HHT affects more than the body. Many people feel anxious or left out due to frequent nosebleeds or visible skin marks.
Support includes:
- Therapy or counselling for children and adults
- Support groups that offer help and community
- Teaching schools and workplaces how to support people with HHT
Mental health experts help patients feel stronger and more confident while living with HHT.
Hepatitis A Education for Doctors and the Public
Many people with HHT wait years before getting the right diagnosis. That’s why more education is essential.
Key actions include:
- Training general doctors, ENT specialists, and gut doctors to spot signs like repeat nosebleeds and red spots on the skin
- Promoting the Curaçao criteria for diagnosing HHT
- Sharing clear patient guides through hospitals and support groups
When doctors recognise the signs early, families can be tested and treated sooner.
Future Prevention and Research
Researchers are working on new ways to stop HHT from getting worse—or even starting at all. Some new drug trials are testing:
- Bevacizumab
- Thalidomide
- Other medicines that block abnormal blood vessel growth
As science improves, we may one day prevent AVMs and telangiectases from forming altogether.
In Summary
Right now, there’s no way to completely prevent hereditary haemorrhagic telangiectasia. But there are strong tools to stop its worst effects. These include genetic testing, early diagnosis, family screening, and regular checks for AVMs. Treating bleeding early and supporting mental health also make a big difference. With a full care plan, people with HHT can live safer, healthier lives.
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