A major international conference on amyloidosis – a rare and serious condition – is set to take place in Gweedore.
International experts will attend the Emerging from the Shadows conference, which will discuss ATTR amyloidosis, a condition that affects the heart, digestive and nervous systems. It is characterised by a build-up of abnormal amyloid or protein deposits in one or more organs of the body.
One particular form of the condition is hereditary and has a link to 25kms of the north west coast of Donegal, thanks to a gene known as T60A, which is prevalent there. That form is sometimes known as ‘Donegal Amy’. Another form is wild-type amyloidosis.
Delays in diagnosing amyloidosis are common because the symptoms can be confused with numerous other conditions.
They may include feeling weak or tired, unexplained weight loss, swelling in the legs, ankles or feet, breathlessness, numbness, pain or tingling in hands or feet, bowel or bladder issues or difficulty in walking.
The conference is being organised by ATTR Amyloidosis All Ireland Support Group and the Irish Heart Foundation, and will take place this Saturday (May 28) from 10am to 4.30pm in the An Chuirt Hotel, Gweedore.
Rosaline Callaghan of ATTR Amyloidosis All Ireland Support Group, has emphasised the international scope of the conference, which will address healthcare professionals and patients throughout the day on early diagnosis and new treatments.
“Speakers include world-renowned experts Professor Julian Gillmore and Professor Mary Reilly, and leading professionals in the field from both Northern Ireland and the Republic of Ireland,” she said.
“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.
“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.
“ATTR amyloidosis is rapidly progressive, and ultimately fatal without treatment. We need to ensure people can get a speedy diagnosis and access to treatment at the earliest opportunity.”
Professor Emer Joyce, a Consultant Heart Function and Transplant Cardiologist at the Mater University Hospital Dublin and Clinical Professor of Medicine at UCD, will address the conference on how amyloidosis affects the heart.
“Cardiac amyloidosis and specifically, ATTR-CA affects a growing population of patients encountered in our clinical practice,” she said.
“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.
“It is hoped that with dedicated funding and national support and coordination, Ireland can be a future leader in ATTR amyloidosis care and best practice.”
Professor Sinead Murphy, Consultant Neurologist with Tallaght University Hospital, will cover how it affects the autonomic nervous system, and Professor Mary Reilly, Consultant Neurologist with Queens University College, will discuss the peripheral nervous system.
Dr Sinead Hughes, Consultant Cardiologist with Altnagelvin Hospital in Derry, will address attendees on the history of the T60A gene.
Professor Aisling Ryan, Consultant Neurologist with University College Hospital, Cork, will cover H90D, the second most common mutation of hereditary amyloidosis in Ireland.
Dr Mark Coyne, Consultant Haematologist in Belfast, will highlight the pathways to genetic testing for hereditary amyloidosis, and Professor Julian Gilmore, Head of National Amyloidosis Centre with UCL London, will discuss a new world of treatments for ATTR amyloidosis.
Attendees will also hear from Mr Carlos Heras-Palou, Sandra Campbell and Jean Christophe Fidalgo on a range of partnerships and alliances on the condition.
The conference is supported by Alnylam Pharmaceuticals, Bridgebio, Intellia Therapeutics, Pfizer and Sobi.