Autoinflammatory Diseases Workshop: Learning is a two-way street

Patients, families, clinicians and scientists come together to share their experiences of rare and debilitating autoinflammatory diseases – and to accelerate a better understanding.

Speakers at the Autoinflammatory Diseases Workshop

26 September 2017

When is a rare disease not a rare disease? When one room contains many of Australia’s known cases, alongside their families and doctors, and the clinical experts and researchers who are working towards a better understanding of their condition.

Such was the case at the Autoinflammatory Diseases Workshop, held at the Garvan Institute in June 2017, which welcomed a diversity of attendees to build connections and share experiences and knowledge about autoinflammatory diseases, or periodic fever syndromes.

While inflammation is a normal response of the innate (non-specific) immune system to harmful stimuli such as bacteria and viruses, in some people this system malfunctions and unchecked inflammation causes damage to the body.

Rare and not well understood, autoinflammatory diseases are characterised by a severe inflammatory response to relatively minor triggers such as stress and common infections. They often include frequent bouts of high fever, joint pain, bone pain and severe gastrointestinal pain. Examples of such diseases include mevalonate kinase deficiency (also known as HIDS), familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), and cryopyrin-associated periodic syndrome (CAPS). These debilitating diseases often appear in childhood and can require repeated hospitalisation; in the severest cases they can lead to fatal complications. Medical research is beginning to uncover the genetic variants associated with each disease.

Professor Mike Rogers, Head of the Bone Therapeutics Laboratory in the Bone Biology Division, along with collaborators Dr Marcia Munoz and Dr Tri Phan, conceived of the Autoinflammatory Diseases Workshop as a way to connect not just professionals working in this area but crucially also people who live with autoinflammatory disease and their families. Prof Rogers’ own research has a major focus on mevalonate kinase deficiency and its diagnosis.

He was astonished by the enthusiastic response from the public.

“Double the number of attendees registered than we expected, travelling from all over Australia, which suggests there was a real need for a meeting like this,” says Professor Rogers.

“We had a session specifically for patients and families, which was their opportunity to direct questions to a panel of speakers including world-leading clinical experts Dr Hal Hoffman from the USA, and Dr Anna Simon from The Netherlands. There was lots of discussion; it was hugely informative.

“My personal highlight was meeting with the patients and hearing their stories because it puts everything in perspective. It’s also very useful to learn about the clinical symptoms and issues that affect individuals on a day-to-day basis because it helps us to decide which aspects to focus on in our lab research. So as an information-sharing exercise it was very much a two-way thing.

“One of the reasons that it’s important we understand what causes those symptoms is because inflammation is an underlying problem in most if not all of the chronic diseases associated with aging: diabetes, cancer, Alzheimer’s, neurological diseases and so on. Understanding what causes inflammation in rare diseases can give us new insight into the very basic things that are happening in the body in these much more common diseases as well.”

Given the event’s success, a follow-up meeting is planned for 2019.