A study involving researchers at University of Limerick has discovered a previously unidentified disease present in three generations of the same family.
The novel genetic mutation is associated with a new variant of Behçet’s disease, a condition itself considered rare in Northern Europe that causes inflammation of blood vessels and tissues.
The new disease was found in five members from three generations of one Irish family.
The discovery was made after rheumatologists affiliated with University of Limerick collaborated with researchers from UCD Centre of Arthritis Research and University of Leeds.
The findings have been published in the leading US journal Arthritis & Rheumatology.
Dr Fahd Adeeb, consultant rheumatologist and lead author of the study, said: “Genetic discoveries have recently shed some light on our understanding of Behçet’s disease.
We discovered a genetic deletion, never previously described, in three generations of the same family and it is associated with a syndrome that looks a bit like traditional Behçet’s disease but with some significant differences.
“Consequently, we believe it to be a new disease we currently describe as Behçet’s variant. This mutation drives inflammation in affected individuals and was shown consistently in all five affected members of the family, who presented with earlyonset disease,” explained Dr Adeeb, who completed his PhD at UL’s School of Medicine.
Professor Alexander Fraser, Consultant Rheumatologist at University Hospital Limerick and Adjunct Associate Professor at UL’s School of Medicine, who was the senior author of the study, said several other families, with similar manifestations, had now been diagnosed with the new disease since its discovery.
“I had a strong interest in Behçet’s disease when I worked in Leeds in the UK. When I came to Limerick I continued that interest but it soon became clear that we had 10 times as many patients with Behçet’s as we should have, judging by the international data,” Professor Fraser explained.
“Further the majority of the patients were clinically unusual in that they were primarily young and female and had distressing but less severe disease than seen in traditional Behçet’s. This made us begin to think that our Behçet’s variant patients may have a different disease altogether,” he added.
The Adjunct Associate Professor at UL’s School of Medicine explained that the findings would inform how patients showing similar symptoms would be cared for in future, while the study will also be expanded.
“Our novel finding complements recent studies and further demonstrates that genotype may inform a personalised medicine approach, with great potential of providing effective, tailored therapeutic strategies to affected patients in the future,” explained Professor Fraser.