Donegal is set to host a major international conference on the rare and serious condition, ATTR amyloidosis.

The condition is characterised by a build-up of abnormal amyloid or protein deposits in one or more organs of the body. Symptoms can include; fatigue; unexplained weight loss; swelling in the legs, ankles or feet; breathlessness; bowel or bladder issues or difficulty walking.

However, as these symptoms can be confused with many other conditions, delays in diagnosing ATTR amyloidosis are common.

The conference has been organised by ATTR Amyloidosis All Ireland Support Group and the Irish Heart Foundation and it will take on May 28 in Gweedore.

One particular form of the condition is hereditary and has a link to 25kms of the north west coast of Donegal as a result of a gene – known as T60A - which is prevalent there. This form is sometimes referred to as ‘Donegal Amy’.

The conference is aimed at healthcare professionals and patients and will include the latest information on new treatments for the condition.

“Speakers include world-renowned experts Prof Julian Gillmore and Prof Mary Reilly, and leading professionals in the field from both Northern Ireland and the Republic of Ireland. Our theme reflects a rising awareness of the condition and the emergence of new treatments, of which there were none until a few years ago,” explained Rosaline Callaghan of the ATTR Amyloidosis All Ireland Support Group.

Ms Callaghan is affected by the ‘Donegal Amy’ form of the condition.

“We need to raise more awareness. My condition of hereditary amyloidosis Thr60ala, is not only rare, it is all the more unusual in that it has a geographically specific origin in north-west Donegal.

“One medical paper suggests that 1% of the population of that county may carry the faulty gene. Of course, not everyone who carries the gene goes on to develop the condition, but many do,” she noted.

ATTR amyloidosis progresses rapidly and ultimately, without treatment, it is fatal.

“We need to ensure people can get a speedy diagnosis and access to treatment at the earliest opportunity,” Ms Callaghan insisted.

One of the experts who will be speaking at the conference is Prof Emer Joyce, a consultant cardiologist at the Mater Hospital in Dublin and clinical professor of medicine at UCD. She will speak about how the condition impacts the heart.

“Cardiac amyloidosis, and specifically ATTR-CA, affects a growing population of patients encountered in our clinical practice. With the advent of contemporary non-invasive imaging techniques, diagnostics in this field have substantially improved, allowing an earlier detection of affected individuals.

“This, alongside the emergence of effective specific therapies for ATTR-CA, is expected to translate into improved outcomes, making possible a promising future for amyloid patients,” Prof Joyce explained.

She said that it is hoped that with dedicated funding and national coordination, “Ireland can be a future leader in ATTR amyloidosis care and best practice”.

Other speakers at the event will include Prof Aisling Ryan, a consultant neurologist at University College Hospital Cork, who will discuss H90D, the second most common mutation of hereditary amyloidosis in Ireland and Prof Julian Gilmore, head of the National Amyloidosis Centre with UCL London, who will discuss new treatments for the condition.

The conference takes place on May 28 from 10am to 4.30pm in the An Chúirt Hotel, Gweedore, Donegal.