HHT: Children and Teenagers

What is HHT?

Hereditary Haemorrhagic Telangiectasia is an autosomal dominant genetic disorder that can affect any member of the family –  where one parent has it – without distinction of age or sex.

HHT is a genetic condition characterised by telangiectases and arteriovenous malformations in specific locations.

Diagnosis of this disorder often takes a long time to establish and there is no cure for it. However, symptoms can often be treated which improve the patient’s quality of life and sometimes their life expectancy. Scientific research should therefore be encouraged. Indeed, rare diseases suffer from a lack of medical and scientific knowledge. But science is progressing and researchers are working more and more often in networks to share the results of their research and move forward more effectively.

Diagnosis in children

Diagnosis of HHT in children:

A visit to the National HHT Centre in MUH Cork should be arranged by your GP where a diagnosis of HHT can be performed.

• It will be explained to the parents that each child has a 50-50 chance of inheriting the gene.
• The child’s history of any unexplained nosebleeds will be noted.
• The red spots associated with HHT (telangiectases) do not usually appear until later in childhood, however should they be visible on the skin, this will help with final diagnosis.
• A CT of the lungs and an MRI scan of the brain will be suggested to detect any abnormalities
• Genetic blood testing may not always be performed where HHT is suspected. Where the parent already has the positive diagnosis via genetic blood testing, any child with HHT will have the very same mutation.
• Where the results are positive for HHT, any appropriate treatment will be explained to the parents.

A school guide for parents, children and teachers

HHT Ireland brings to you every year a school guide for parents, teachers and children living with HHT to provide everybody with  peace of mind as they return to school.

This guide is meant to bring answers to questions from parents and teachers and help you prepare for your child’s return to school. It offers explanations and ideas to help with schooling.

You will also find information sheets to complete and return to your child’s teachers.

Communication is a key to develop a good environment for the child and a better exchange between school and home.

This guide is intended to be used in conjunction with the teacher. It constitutes a base of support for supporting HHT children and adolescents in school.

To download the school Guide 2023, click School Guide Ireland 2023

What should I know to take care of my children properly?

It is essential not to hold your child back just because he/she has HHT. Let him/her do activities and enjoy his/her life. The only activity recommended NOT to take part in is scuba diving for those children with HHT of the lungs. Otherwise there is no need for you to worry.

Also, make sure your child has a good and healthy diet, full of iron and vegetables and that he/she stays hydrated by drinking water.

Your child may not understand the situation and may be scared. Reassure him/her and explain what is happening: it is important to use simple words to explain the disorder and encourage your child to ask questions.

If you avail of babysitting services, make sure you inform the babysitter about HHT and what to do in case of a problem.