HHT Scotland Information

What is HHT?

HHT is estimated to affect 1 in 5,000 people, resulting in around 1,000 people in Scotland living with the condition.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic disorder characterised by abnormal blood vessel formation, leading to frequent nosebleeds, skin telangiectasias and arteriovenous malformations in various organs (AVMs).

Symptoms of HHT:

Nose – Greater than 90% of people with HHT have unexplained & recurrent nosebleeds which can range from mild to very severe.
Heart – High heart rate and/or high blood pressure can be caused by the presence of AVMs in the lungs. Heart failure is another symptom experienced by patients – which can be caused by AVMs present in the liver.
Lungs – Pulmonary hypertension (high blood pressure in the lungs) and low oxygen saturation are symptoms caused by lung avms. Other symptoms include shortness of breath/exercise intolerance/fatigue/anxiety/depression – all caused by lung avms.
Brain – Seizures of the brain are symptoms caused by brain AVM.
Liver – The most common symptom of AVMs in the liver is high output cardiac failure (HOCF) with secondary pulmonary hypertension. Other symptoms include arterio-portal or veno-portal shunt, leading to portal hypertension syndrome with or without hepatic encephalopathy or biliary tree ischemic necrosis. Liver Cirrhosis is another symptom experienced by patients and caused by liver avms.
Skin – Visible telangiectases often occur on the fingertips, lips, and tongue. They look like small red dots sitting under the skin. When you put pressure on them, they turn white since pressure prevents the high-flow blood from moving through the malformation. They can be painful to touch for many patients and in others they do not cause pain.

Priority

Establish a trusted source of information and support

We want to foster a supportive, inclusive community where all of us affected by HHT* can connect, share and lead. We will always ensure that people with lived experience are driving our direction. We will build on our strengths through training and mentoring. We will develop peer support networks and seek to influence future service developments.

*Highlighting that there are 3 distinct strains of HHT, (Endoglin/ACVRL 1/SMAD4) with very different symptoms and outcomes, and increasing awareness and understanding.

Living with HHT

Iain's Story

My father was first in the family to be diagnosed with HHT (Hereditary Hemorrhagic Telangiectasia) in 1988. I was told that I probably had it, due to my regular migraines and occasional nosebleeds.

In the early 2000s, following my move from England to Scotland, episodes of gastrointestinal pain led to investigation at St John’s. By this time my migraines were less frequent and nosebleeds were rare, however they decided to do a colonoscopy and discovered polyps, which fortuitously were benign. Thereafter bi-annual screening was started.

The next major incident in my timeline to discovery of my condition was around 2010, when I was informed at an endoscopy following stomach pains, that I had a ‘forest of polyps, too many to count’ in my stomach. Histology showed them to be benign, but they reiterated the diagnosis of HHT.

Regular check ups continued, and in the meantime my father had a right hemicolectomy and later died of a stroke in 2009. That same year a small growth was spotted on my back, and resultantly I had a small skin cancer removed. It was not until around this time it was revealed to me that I had a pAVM on my lung, which apparently had been there for some years. The advice I received from Hairmyers was, only worry if you start to cough up blood.

In March 2015, during a routine endoscopy it was discovered my stomach was filled with blood, and ‘a carpet of polyps’. I was prescribed Omeprazole, to stop the bleeding. In October 2014, I had had a routine colonoscopy which gave an all clear, then because of ongoing gastrointestinal aches an MRI scan of my intestines was called to identify the source of bleeding and the subsequent aches. It discovered a polyp in my ascending colon, which upon examination was malignant. On my 56th birthday I had a hemicolectomy.

I underwent a five year bowel screening programme post-operation. I remained under the gastrointestinal clinic, who were still trying to find out the cause of bleeding in the stomach which was being controlled by the Omeprazole. However, around March 2018, I began to struggle with eating and appetite. I had a clinic appointment due in July 2018, following stopping eating totally in June, due to constant nausea and intermittent violent vomiting. The appointment was brought forward with an emergency endoscopy. My stomach was blocked and a Gastrectomy needed. I had lost 25 kilos in 4 months.

It took four months to get an operation date. I was fed Jevity by tube to keep me alive. The Gastrectomy was performed February 2019, and it was only on handing my excised stomach to genetics that it was diagnosed that all my problems down the years were linked to SMAD4 gene defect, which is the potentially deadly combination of HHT and Junior Polyposis Syndrome.

My HHT manifests differently to other sufferers, in that my excessive bleeds are all internal, feeding Juvenile Polyps throughout my tract.

The main impacts for me now have been the loss of one third of my colon, stomach, and recently my gallbladder, as well as permanent damage to my liver. I have also resultantly had to totally revise my diet.

SMAD4 is the only variant of HHT that can be cancerous, but it can carry the symptoms of the other variants to, i.e external bleeding, migraines and AVMs.

The outcome is regular (annual) colonoscopies, MRI and CT scans, looking for cancerous polyps fed by internal bleeding and blood clots, threatening the brain, heart, liver and pancreas.

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Elspeth's Story

As I sit down to write this, my nose has already begun to bleed. For me, hot drinks and the dry air of a centrally heated room are common triggers.

Growing up, I only had the occasional nosebleed—often inconveniently timed just before catching the school bus. I also remember one starting in the middle of an important exam. My dad, a secondary school teacher, struggled with frequent nosebleeds at the time and, for him, they were not just inconvenient but genuinely disruptive.

It wasn’t until my 50s that things changed. My nosebleeds became heavier and lasted longer. After an hour or two of following all the recommended steps with no improvement, I’d find myself heading to A&E. Working as a Schools Careers Adviser, I began having nosebleeds in staff meetings and even during client interviews—embarrassing, unpredictable, and increasingly stressful.

That’s when I first heard the term Hereditary Hemorrhagic Telangiectasia (HHT), a genetic disorder that causes abnormal blood vessel formation. While nosebleeds are its most visible symptom, the condition can also cause internal bleeding, making awareness and diagnosis incredibly important.

Thankfully, my symptoms fall within the moderate range, and I’ve learned how to manage them reasonably well. Keeping my nasal passages moist with prescribed antibiotic cream and saline spray is essential. I’ve also discovered that avoiding overheating, restricting alcohol consumption and spicy foods, plus steering clear of certain exercises helps—so, no more ‘Downward Dog’ for me!

Through appointments with medical specialists, conversations with others living with HHT, and a lot of online research, I’ve developed daily routines that make the condition far more manageable. As a result, I feel less anxious than I once did. Knowing that my two adult sons can now access genetic testing for HHT is also a comfort.

With the launch of the HHT Scotland website, I’m hopeful that others affected by HHT will find reliable information, support from a wider community, and—importantly—a sense that they are not alone.

Elspeth Ashworth
Edinburgh