Railway worker Andy Long lives with a rare genetic disorder that killed his mother at just 24 and has almost killed him. With a new treatment now available in Wales, he tells health reporter ANDY RUTHERFORD about living with hereditary angioedema.

ANDY Long does not know how many generations of his family have lived with the consequences of hereditary angioedema (HAE).

But he is acutely aware of the heavy toll the debilitating and potentially fatal disorder has taken on himself and close relatives.

The 48-year-old, of Caerleon Road, Newport, was just five years old when mum Carol died after her throat swelled so much due to HAE she suffocated.

And Mr Long has been dangerously ill on a number of occasions, due to swelling in his intestines causing blockages and excruciating stomach pain.

Before being put on an appropriate medicine regime, as doctors struggled to determine what was wrong, he suffered regular, intensely painful stomach upsets, on one occasion waking and vomiting blood, and losing so much weight he was at one stage down to just seven stones.

Hereditary angioedema causes these severe, recurring and disfiguring attacks of swelling across the body, notably in the abdomen, intestines and internal organs, in the throat, tongue, face, arms, legs, hands and feet.

It is due to inflammatory elements of the body’s autoimmune system being unregulated, caused by poor functioning or lack of a natural protein in the body called C1 inhibitor.

There are an estimated 50- 60 cases in Wales.

“As a child I got swellings in my hands and feet quite often, but didn’t understand it,” said Mr Long, who lived with grandparents after his mum died.

“I’d be given an antihistamine, but I don’t think that did anything. I didn’t worry about it and didn’t understand what my mum had died of.

“In my 20s I started to get quite bad stomach upsets.

“I had tests for stomach cancer, colonitis, but they couldn’t find anything. The attacks got more frequent, then they said it was IBS (irritable bowel syndrome).

“After the occasion when I woke up in the night vomiting blood, I was taken into hospital and had more tests.

“By then I’d lost quite a bit of weight, but I knew a bit more about HAE and we (he and wife Jackie) had had genetic counselling before trying for a baby.

“The doctors suggested injections of fresh frozen plasma from donated blood with the missing enzyme in it. Next time I had an attack I tried it and it worked.”

Different treatments followed over the years, then came a C1 inhibitor injection, formed from donated blood.

Attacks decreased and the latter treatment stopped attacks within an hour.

There’s a 50 per cent chance of HAE being passed on but HAE for Mr Long’s family has now stopped, as his son Joel, 23, does not have the disorder.

Convenience of a do-it-yourself jab

A NEW treatment – Cinryze – is being made available in Wales following a recommendation from the All Wales Medicines Strategy Group.

A C1 inhibitor, it is approved for the treatment and prevention of angioedema attacks in adults and adolescents with HAE.

Eligible patients may be able to self-administer Cinryze when required, and Mr Long welcomes its introduction.

“It can be a do-it-yourself injection, and that’s much more convenient. And having a variety of treatments is good because not everything works for everybody,” he said.

For more information on HAE, visit the support group HAE UK’s website www.haeuk.org

Difficult-to-diagnose illness can have drastic results

DESPITE treatment advances, and increased knowledge of HAE, because symptoms can mimic other conditions, people are often treated for the wrong problem before being diagnosed.

“There are people who have had exploratory surgery to discover what is wrong with them, but it has found nothing,” said Mr Long.

“Things are better now.

But my grandfather had it, couldn’t hold down a job and was branded workshy. And my mum was ill all the time.

“When I was diagnosed it was still called hereditary neurotic angioedema, and for a long time there was a feeling among the medical profession that it was psychosomatic.

My mum spent time in St Cadoc’s Hospital and had electric shock treatment.” Mr Long has only had a throat swelling through HAE once, and got to hospital in time.

“Even though more is known about HAE, it still catches people out and it affects people differently.

Some are very ill all the time, some hardly have problems,” he said.

“Different things trigger it, such as trauma – falling, knocks, bumps – and I’ve found repetitive movements can trigger it. I’ve also found I can’t eat certain foods.”