Hereditary Hemorrhagic Telangiectasia

Why Was This Teenager Bleeding So Excessively?

“Don’t worry,” the teenage girl said as she lowered herself to the ground. It was her last day at her suburban New Jersey high school, and she and her friends were in the lounge, studying for their very last exam.

“How the Healthcare Industry Failed my Daughter”

When Sofia was about three years old she started getting frequent nosebleeds. We tried all the obvious things, humidifiers, Vaseline or Neosporin in her nose, etc. As she got older, the nosebleeds became more frequent, more intense and harder to stop.

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century

This review focuses on the evolving evidence base for HHT management, issues regarding pregnancy and prothrombotic treatments, and discusses the molecular and cellular changes that underlie this disease.

Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. Although HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis not suspected until adolescence or later. Small AVMs (or telangiectases) close to the surface of the skin and mucous membranes often rupture and bleed after slight trauma.

Living with HHT Book

Few people are familiar with HHT, an uncommon blood vessel disorder affecting about 1 in 5000 people around the world. Even if you’ve been diagnosed with HHT, you may be unclear what to do next. So today I’ll introduce you to HHT—what it is and when to get tested for it.

Why Proper Screening and Treatment Can Save Your Life

If you’re reading this post, you probably know at least a little about HHT. But most people, including many doctors, have never heard of HHT. In fact, most people who have HHT don’t know that they have it! Which is precisely why awareness is so critical to identifying and treating people who have HHT.

'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.