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RESEARCH HIGHLIGHT

Tallaght University Hospital, Trinity College Dublin, and St James’s Hospital collaborated on chronic pancreatitis genetic study

Researchers at the Centre for Pancreatico-Biliary Disease at Tallaght University Hospital and the Trinity Translational Medicine Institute, Trinity Centre for Health Sciences, St James’s Hospital, investigated the prevalence of specific genetic mutations in patients with chronic pancreatitis.

Chronic pancreatitis is a progressive condition with increasing inflammation and damage to the functions of the pancreas. Patients with this condition have life-long, progressive problems with digestion and absorption of food. They may also develop diabetes (type 3c diabetes) and commonly have chronic, untreatable pain as well as frequent hospitalisation. Some patients have chronic pancreatitis due to excess alcohol consumption, but this is not the only reason for developing this disease. In a percentage of patients, the causes is idiopathic (unknown). Some patient with presumed alcohol-related chronic pancreatitis may drink relatively modest amounts of alcohol. Overall, the cause is complex and is likely to be an ill-defined interplay of genetic and environmental factors. This study aimed to determine if specific genetic mutations were present in those with alcohol-related chronic pancreatitis and those with chronic pancreatitis of unknown cause.

Describing the study, lead author Professor Kevin Conlon, Professor of Surgery at Trinity College Dublin said:

“We recruited 126 patients for this study and compared them to 167 control patient (without pancreatitis) from an existing database. We found that 20% of patients had a genetic mutation (specifically SPINK1) that could lead to chronic pancreatitis, compared to only 6% of the control group. This means that some patients had been categorised as having either alcohol-related or unknown cause chronic pancreatitis when in reality they had a genetic mutation which caused their disease.”

Professor Conlon explained:

“Patients with chronic pancreatitis who do not have a convincing history of excess alcohol may benefit from genetic testing to determine the true cause of their condition.”

Commenting on the complex nature of chronic pancreatitis requiring coordinated clinical care, Professor Conlon said:

“Multidisciplinary management with close links to primary care is paramount for the optimal management of this disease.”

This project was funded by an industry grant from Mylan Healthcare and was part of the research studies of Dr Hazel Ní Chonchubhair, who graduated with a PhD from the Department of Surgery in 2019. Speaking on the importance of collaboration, Professor Conlon said:

“We were delighted to work with our colleagues in St James’s Hospital to bring this project to fruition. This research builds upon our body of work in the clinical and nutritional management of acute and chronic pancreatitis. We are grateful to our industry partners who funded Dr Ní Chonchubhair’s PhD studies, and to our other funders including the Health Research Board and The Meath Foundation.”

Collaborator Professor Ross McManus from the Trinity Translational Medicine Institute in St James’s Hospital commented:

“This is an excellent example of how genetic analysis can look under the bonnet to better characterise these conditions, many of which behave similarly from a clinical standpoint but are actually different mechanistically. Defining diseases more accurately and speedily is a key step in better disease management.”

This research was published in full in February 2021 (Full citation: Ní Chonchubhair HM, Duggan SN, Egan SM, Kenyon M, O'Toole D, McManus R, Conlon KC. A high prevalence of genetic polymorphisms in idiopathic and alcohol-associated chronic pancreatitis patients in Ireland. HPB (Oxford). 2021 Feb;23(2):231-237. doi: 10.1016/j.hpb.2020.06.002.)