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Alpha-1 Family & Patient Conference 2024
Alpha-1 Family & Patient Conference
The Alpha-1 Patient & Family Conference took place on Saturday 5th October 2024 in the Marino Institute of Education after a break of five years because of the Covid-19 pandemic. Opening the conference, CEO Anne Marie O’Dowd welcomed the audience and the invited speakers. She introduced Michelle Hughes, who is a board member of the Alpha-1 Foundation Ireland and herself a person living with Alpha-1. Michelle introduced Prof Gerry McElvaney who is well known in the Alpha-1 community as an expert on the condition. As well as leading the Alpha-1 research and clinical team in RCSI and Beaumont, we learnt he had a past life as the team doctor for the Dublin football team but that Monaghan GAA is really the priority!
What is Alpha-1 and Emerging Therapies – Prof Gerry McElvaney
Prof McElvaney described Alpha-1 Antitrypsin Deficiency (known as AATD or Alpha-1 for short) as causing a risk for two separate health problems – lung disease and liver disease. The first step is to get a diagnosis; then managing the condition involves stopping smoking; vaccination; rehabilitation and if required, standard COPD medications and monitoring liver disease and finally specific treatments if indicated. He gave some background to the only current treatment approved – intravenous (IV) plasma purified AAT, often called augmentation therapy. Unfortunately, this therapy is not available in Ireland as it is not approved by the Irish government because of its high cost. Many will be aware of campaigns and hard work over the years by patients and Alpha-1 Foundation Ireland to try to reverse this decision, so far to no avail. However, Prof McElvaney highlighted that newer, better and hopefully less expensive treatments are coming down the tracks such as inhaled therapies. Also, gene therapy/DNA editing could possibly halt Alpha-1 in its tracks or even cure the condition. All of these are at research stage but the future looks bright and hopeful.
Alpha-1 in Babies and Children – Dr Emer Fitzpatrick, Hepatologist, CHI Crumlin
Prof McElvaney introduced Prof Emer Fitzpatrick, Paediatric Hepatologist, from Crumlin Children’s Hospital who talked about liver disease in Alpha-1 with a focus on the infants and children. She discussed various tests for liver health and noted that liver disease caused by Alpha-1 can have variable presentations and outcomes. About 10% of those with Alpha-1 will have a liver symptom and between 10% and 20% of those that have liver issues at birth will develop significant liver disease and may need a liver transplant. The common features of liver disease caused by Alpha-1 in infants and children are jaundice, abnormal liver blood tests, diagnosed usually via family screening or evidence of advanced liver disease. A newborn screening study in Sweden in the mid-1970s diagnosed 127 ZZ cases in 200,000 infants screened. Newborn screening for Alpha-1 does not exist in Ireland but this is an area that Alpha-1 Foundation Ireland will be looking at over the next few years.
Prof Fitzpatrick went on to describe the care and clinical management of children with Alpha-1 and also talked about new therapies currently being studied. She concluded with some Do’s and Don’ts in Alpha-1 liver disease – good nutrition; continued screening for liver disease in childhood and avoidance of alcohol. Also avoid certain medications such as aspirin and NSAIDs (paracetamol is safe), avoid herbal remedies, non-prescribed protein supplements and illicit drugs and finally – never smoke or vape.
The Alpha-1 Prize for Best Communication of Research to a Lay Audience
This unique session gave a chance for the up-and-coming researchers studying Alpha-1 at the Irish Centre for Genetic Lung Disease in RCSI Beaumont Hospital to show their work.
Rosie Carroll – As a Clinical Nurse Specialist, Rosie has been working in Beaumont since 2018 on the Cystic Fibrosis team. She joined the Alpha-1 research team as a research nurse in 2023 and she is working on Exploring Exacerbations (Flare-ups) in Alpha-1. Part of her study entails regularly phoning patients for updates where she gathers information relating to how often our patients are experiencing flare-ups of their lung problems.
Emma Farrell* – A Clinical Lecturer in Medicine and a Respiratory Registrar, Emma was previously a nurse before studying medicine. Emma is carrying out a ZZ Family Study – she is looking at non-Alpha-1 siblings of known patients with the ZZ phenotype. The idea is to compare their health with their Alpha-1 sibling to measure the exact risk of lung disease to the ZZ patient.
Rebecca Fitzpatrick – Having completed her PhD in TCD, Rebecca joined the team in RCSI in 2023 and her research is focusing on the Immune Responses in COPD and Alpha-1.
Ronan Heeney is the lead scientist working on the National Targeted Detection Programme (TDP) for Alpha-1. Set up in 2004 and funded by a grant from the HSE, the TDP tests over 1,000 people for Alpha-1 every year and Ronan helped to demystify the testing process.
Emma Leacy completed her PhD in TCD and joined the team in 2021. She works on Circadian Rhythms (body clock), Metabolism and Sex Difference in Alpha-1.
…and the winner of the inaugural prize was…Emma Farrell*!
Update on the National Targeted Detection Programme, National Alpha-1 Registry and National Centre of Expertise – Dr Tomás Carroll, Chief Scientist, Alpha –1 Foundation Ireland and RCSI
Tomás first spoke about the basics of Alpha-1. It is a genetic condition, most often caused by a single mis-placed letter in the gene that produces alpha-1 antitrypsin, which we need to protect our lungs. There are 2 copies of every gene in our body, 1 we get from our mother, and 1 from our father. Some people with Alpha-1 have 2 faulty copies of the gene (usually ZZ), others inherit 1 faulty copy of the gene (usually MZ). Without enough alpha-1 antitrypsin, our lungs are much more at risk of damage caused by what we breathe in, such as cigarette smoke or vapes. The most important thing about Alpha-1 is that we can reduce the risk of any disease once we know what we are dealing with. So getting diagnosed as early as possible is the key to staying healthy and well.
Tomás discussed how Alpha-1 is actually a relatively common condition. There are over 250,000 people on the island of Ireland estimated to have a form of Alpha-1. In simple terms, 1 in 25 Irish people carry 1 faulty copy of their Alpha-1 gene.
There is a free testing service for Alpha-1, provided by the Alpha-1 Foundation Ireland lab in Beaumont Hospital. This is part of a nationwide Targeted Detection Programme that is funded by the HSE. It began in 2004 so this year is the 20th anniversary. Targeted detection of Alpha-1 is recommended by the World Health Organisation. This means that certain groups of people should be considered for testing. The groups include those with COPD, people with severe asthma that does not respond to treatments, people with liver disease of unknown cause, and people with a known family history of Alpha-1.
Tomás described how the National Targeted Detection Programme has so far found over 500 people with severe Alpha-1 and a further 6,000 people with moderate Alpha-1. The next step after diagnosis is the National Alpha-1 Clinic if people wish to be seen by a team of experts, including Professor Gerry McElvaney and Rosie Carroll, Alpha-1 nurse specialist. He discussed some of the tests carried out at the Alpha-1 clinic, including CT scans, breathing tests, and a liver scan called a Fibroscan. Tomás finished by talking about the support and information that Alpha-1 Foundation Ireland can offer, and how newborn screening for Alpha-1 may be the best way to ensure people with Alpha-1 stay healthy and well. Last but by no means least he thanked the Alpha-1 community for their constant support.
A Physio’s Guide to Keeping Well with Alpha-1 – Cathy Ring, Senior Respiratory Physiotherapist, Beaumont Hospital
Cathy introduced her presentation by outlining the role of physiotherapy – education in exercise and physical activity, airway clearance technique (phlegm), provision of aids or equipment, oxygen assessment and assessment of exercise capacity. She talked about the importance and the extensive benefits of exercise and movement. She acknowledged the barriers to exercise, including concern if someone has lung disease and the worry about breathlessness. But exercise is so important to maintain health even with lung issues. For those with lung disease, pulmonary rehabilitation is particularly effective and especially for COPD. Patients are referred by their GP or hospital consultant and sessions usually last for 8 weeks at local health centre, leisure centres or online. Everything is at the patient’s pace and programmes are tailored for each person. People on oxygen or with disabilities can participate.
Cathy also outlined how breathlessness is managed and gave a range of tips. Singing for lung health has become very popular and members of COPD Support Ireland, can join the ‘Sing Strong’ programme online. It is free to members.
Her final message was that even small increases in activity have benefits, think about incorporating activity in your everyday life and find something you enjoy, breathlessness can be managed, and pulmonary rehab and physiotherapy is there to help.
Psychological Wellbeing – Dorothy Casey, Psychotherapist and Alpha-1 patient
Dorothy gave a powerful talk about her own experience of diagnosis and with great insight, discussed it in the context of grief and loss theory. She outlined the normal feelings and experiences associated with the stages of grief – denial, anger, bargaining, depression, acceptance as described by psychiatrist Elizabeth Kubler-Ross. People can experience these stages in many ways, not necessarily in order and the feelings may be repeated. Dorothy talked about it as a process and the timeline will be different for everyone. She described all the ways someone can live well with Alpha-1 and in particular, how emotional wellbeing can be maintained. In the questions and answers after Dorothy spoke, it was remarkable how many people reported similar emotions.
Dorothy’s insightful and hopeful presentation brought the day to an end.
We are very grateful to everyone for attending and for their feedback which helps us plan and improve future conferences.
A final thank you to GSK and A. Menarini who provided unrestricted educational grants to host this conference.
Info Centre
What is Alpha-1 Antitrypsin?
Alpha-1 antitrypsin is a vital protein produced by the liver to protect the lungs. It provides protection from the harmful effects of infections and inhaled irritants, particularly tobacco smoke. It can be easily measured by a simple blood test.
What is Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic condition which, after cystic fibrosis, is the commonest genetic disorder in Ireland. It severely affects more than 15,000 people, with another 250,000 carriers also at risk of lung and liver disease on the island of Ireland. It is a proven genetic risk factor for chronic obstructive pulmonary disease (COPD).
How Do I Get Tested?
The Alpha-1 Foundation Ireland provides free testing for Alpha-1 as part of a national screening programme which is funded by the HSE. It is a simple blood test. For more details ring 01-8093871 or email alpha1@rcsi.ie