'I didn't realise how ill I was'

By Jane Elliott
BBC News health reporter

'Nobody has ever heard of my condition'

As Sarah Colledge became breathless and increasingly tired she worried she was becoming unfit.

She redoubled her efforts in the gym, but even getting started on the step-machine left her tired.

Her GP initially thought she might have asthma, although tests came back clear, and Sarah worried he was labelling her a hypochondriac.

Eighteen months later her condition had deteriorated even further and a worried Sarah went to see another GP.

Tests

She had a series of tests and was told that she had the life-threatening condition pulmonary hypertension (PH) and that if she had not received prompt treatment she would probably have died.

Pulmonary hypertension occurs when high blood pressure builds up in the arteries that supply the lungs.

It was a relief to know that I was actually ill, but I was not expecting the diagnosis to be something so serious Sarah Colledge

This puts pressure on the heart and reduces the amount of oxygen that is able to reach the tissues of the body, causing breathlessness and exhaustion.

In patients with pulmonary hypertension, the blood vessels in the lungs constrict, making the heart work harder.

This can eventually lead to heart damage, and even death.

There is no cure, but there is effective medication if given early enough in the disease's progression.

For many, the cause of the condition is unknown.

It is estimated that around 100,000 people are affected by it in the US and Europe and there are fears that because the condition is rare many, like Sarah, are not being diagnosed early enough.

Symptoms

She said for nearly two years from the onset of her condition she was troubled by vague, but increasingly serious symptoms, but that these were dismissed by her GP.

"I kept saying that I was breathless, but I felt that nobody was listening to me. I thought I was becoming unfit and tried doing more exercise, but that just made me worse."

Eventually Sarah, now aged 31, from Lincolnshire, was referred to a cardiologist who diagnosed PH.

"This meant nothing to me," she said. "It was a relief to know that I was actually ill, but I was not expecting the diagnosis to be something so serious, that I had this incurable and potentially life-threatening thing."

For three years, Sarah had to take her blood pressure-lowering drugs through a nebuliser seven times a day, meaning her life became so restrictive even making a trip to see a film had to be carefully planned around her treatment times.

For the last two years she has been on a new drug, Bosentan, which allows her more freedom as she now only needs to take one tablet each morning and evening.

Serious

She says, however, that many people are still unaware of how serious her condition is.

"Nobody has heard of PH. Because I look so well it is very difficult for people who do not know me to know that I am quite as ill.

"People do not understand and when I say what it is I have they say 'Oh yes I have high blood pressure too', but of course that is quite different."

Research shows that despite the seriousness of the condition that one in five patients with PH have to wait more than two years to get correctly diagnosed.

The longer it takes for the diagnosis to be made, experts say the less likely it is for the treatments to be successful.

There are currently eight specialist centres in the UK, providing expert diagnosis, treatment and management, but experts say there is a lack of understanding in the general healthcare community and that this is inhibiting diagnosis.

Iain Armstrong, chairman of the PHA-UK, and a pulmonary hypertension consultant nurse at Sheffield PCT, said that while it was understandable that the condition, which is initially asymptomatic, is missed that they would like to see a greater awareness of PH.

"The lack of awareness is very frustrating. If sufferers had the opportunity to be referred to one of the specialist centres earlier in their disease progression we would have the ability to improve their quality of life living with the disease.

"Unfortunately some sufferers are just not getting the appropriate care soon enough and as a result there are limitations for the patients in both the treatment and outcomes."

He said PH was commonly misdiagnosed as asthma.

Mr Armstrong said that certain conditions such as patients with systemic sclerosis (a connective tissue disease) and those with congenital heart diseases carried a 15-20% risk of developing the condition, as do 3-4% of patients with HIV.

He said these 'at risk' groups can be monitored, but that many had no linking condition and these were the more difficult cases to spot.

He said that the condition is so little known that even when people get their diagnosis they are oblivious to the seriousness.

"We get patients referred to us for diagnosis and when we break the news to them that they have PH they say 'thank God - I thought I had something serious like cancer'.

"It is a real challenge from our point of view trying to get the information out to people.

"It is a serious condition. Without treatment people will die, but with the effective treatments their survival can go up to eight years and we have patients here who are 10 or 11 years."