Diagnosis and treatment of hereditary autoinflammatory syndromes

Diagnosis and treatment of hereditary autoinflammatory syndromes

Diagnosis and treatment of hereditary autoinflammatory syndromes (#65)

Anna Simon ¹

Radboud Institute for Molecular Life Sciences, GA Nijmegen, Netherlands

Autoinflammatory syndromes are disorders characterized by recurrent episodes of systemic inflammation, that often seem unprovoked. Symptoms can vary, and may include fever, joint and bone pain, myalgia, skin rash, abdominal pain, and more. There are a number of rare hereditary autoinflammatory syndromes, caused by a variety of genetic defects in pathways of the innate immune system, and new disorders are still discovered regularly. This presentation will focus on how to recognize and diagnose an autoinflammatory disorder in clinical practice, as well as management of the disease in patients.

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Simon, A

Anna Simon is an Associate Professor at the Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands, and holds a position as Junior Principal Investigator at the RIMLS Research Institute, Nijmegen, the Netherlands. She specializes in autoinflammatory disorders. She is a co-founder of the Radboud clinical expertise centre for Immunodeficiency and Autoinflammation in Nijmegen. Anna Simon received her MD from Utrecht University, The Netherlands, in 1999. In 2004, she completed her PhD, cum laude, on the subject of hereditary autoinflammatory syndromes. In 2006-2007 she spent 2 years as a postdoc at the National Institute of Health (NIH), Bethesda, MD, USA, in the lab of Dan Kastner. In March 2016, she became a fellow of the Royal College of Physicians Edinburgh.

Diagnosis and treatment of hereditary autoinflammatory syndromes (#65)

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