Hereditary Hemorrhagic Telangiectasia

Most people, including many doctors, have never heard of HHT. In fact, most people who have HHT don’t know that they have it - Sara Palmer

Hereditary Hemorrhagic Telangiectasia
Hereditary Hemorrhagic Telangiectasia

image by: Cure HHT

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'I have the same rare disease that killed my brother'

I was like all of the other kids at school, just that my doctor was in Cork and not in Dublin, even though I lived in Swords.

He was both my doctor and my brother Paul's doctor. Before Dr Adrian Brady could become our doctor, we had to do some tests and, if we passed, he could be our doctor.

A lot a kids can suffer nosebleeds but ours were different. Growing up with nosebleeds was normal in my house. Firstly, it wasn't just me but it was my mam and my brother too. And my aunties and uncles, my granddad, my great grandmother. Alarm bells.

My mam had spent the majority of both her pregnancies in bed with heavy nosebleeds and had to get blood transfusions. When my…

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 'I have the same rare disease that killed my brother'

A lot a kids can suffer nosebleeds but ours were different. Growing up with nosebleeds was normal in my house. Firstly, it wasn't just me but it was my mam and my brother too. And my aunties and uncles, my granddad, my great grandmother. Alarm bells.

Cure HHT

The HHT Foundation's new brand, Cure HHT, deepens and renews our commitment to the HHT community. We have one mission that drives everything we do – to find a cure for HHT disease, a genetic blood vessel disorder that affects 1 in 5,000 people - 90% of whom are undiagnosed.

Spider Veins

There is almost universal agreement amongst experts in this field that Microsclerotherapy is the "Gold standard" in the treatment of telangiectasia or spider veins. Vascular or surface lasers have a very limited role in the treatment of spider veins.

CDC

Nosebleeds are the most common sign of HHT, resulting from small abnormal blood vessels within the inside layer of the nose. Abnormal blood vessels in the skin can appear on the hands, fingertips, face, lips, lining of the mouth, and nose as delicate red or purplish spots that lighten briefly when touched. Bleeding within the stomach or intestines is another possible indicator of HHT that occurs because of abnormal blood vessels lining the digestive tract.

CMAJ

Hereditary hemorrhagic telangiectasia occurs worldwide. Its frequency varies between countries, but this is thought to be largely because of underreporting.

FP Notebook

Professional reference.

MayoClinic

HHT is genetic and can affect people at any age. Its severity can vary greatly from person to person, even within the same family.

myDr

Generally, people with hereditary haemorrhagic telangiectasia, also known as Osler-Weber-Rendu syndrome, have a history of recurrent nosebleeds. Small AVMs known as telangiectases also occur in the skin (especially on the fingers, hands, face and lips), the tongue and lining of the mouth and nose, and the conjunctiva (the thin, transparent membrane that covers your eyes). Typically they appear as small red or purple dots that grow slowly in size, although the size can vary from barely visible to up to 1 cm across. The telangiectases appear progressively from late childhood into middle age. Bleeding from these lesions rarely causes problems. Larger AVMs may occur in organs such as the lungs, liver and brain — these AVMs can cause problems if they bleed. People with hereditary haemorrhagic telangiectasia may also have AVMs in the lining of the bowel or the bladder that can also bleed, and may lead to the development of anaemia. Bleeding from the gastrointestinal tract tends to occur in older people with HHT.

NHS

Hereditary haemorrhagic telangiectasia (HHT) is an inherited genetic disorder that affects the blood vessels. It's sometimes spelt hereditary hemorrhagic telangiectasia and is also known as Osler-Weber-Rendu syndrome.

Patient

Hereditary haemorrhagic telangiectasia (HHT) is also known as Osler-Weber-Rendu syndrome. The condition is characterised by vascular dysplasia leading to telangiectasia. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. There are also often arteriovenous malformations (AVMs), particularly of lungs, liver and brain.

RDHMag

Children have a 50% chance of having ROW/HHT if one parent has the disorder. ROW syndrome affects males and females equally.

Rosacea.org

Which came first, the chicken or the egg? In rosacea, are visible dilated blood vessels -- called telangiectasia -- the result of damaged connective tissue, or is it the damaged blood vessels themselves that have a degrading effect on the connective tissue? Experts have discussed both possibilities.

UCSF

Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder of the blood vessels which affects approximately one in 5,000 people. The disorder is also referred to as Osler-Weber-Rendu Syndrome. HHT is caused by a mutation in one of several HHT-associated genes. HHT is autosomal dominant, which means that if one of your parents or a sibling has HHT, there is a 1 in 2 chance (50%) that you will have HHT.

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