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Mast Cell Activation Syndrome and Hypermobile Ehlers Danlos Syndrome

The lecture on current concepts in Mast Cell Activation Syndrome (MCAS) given by Dr. Lawrence Afrin for the members of our Australian Hypermobility Special Interest Group recently provoked some deep thinking and productive discussion amongst the attending health professionals. Dr Afrin is a medical specialist and researcher based in New York who has published some of the most accessed papers on MCAS as well as a book on the subject and we are grateful for his generosity in presenting this lecture for us.

Our group members explored and discussed with Dr Afrin how disordered mast cell activation can underlie not only inflammatory processes but altered tissue growth throughout the many areas of the body where mast cells are active. One, as yet unproven, theory is that MCAS may be a causative factor in the hypermobility of a subgroup if hEDS (Hypermobile Ehlers Danlos Syndrome) patients by impacting the formation of their connective tissues due to inappropriate release of growth mediators from mast cells.

A deeper understanding of the behaviour and functions of mast cells in the body makes it possible to understand the multitude of seemingly unconnected symptoms that can arise in a patient whose mast cells are activating inappropriately. These include symptoms of the skin, gastrointestinal, urogenital, neurological and musculoskeletal systems. Because of these effects in multiple body systems, patients may often consult a broad range of different medical specialists for separate symptoms, without anyone connecting the dots and realising that the symptoms may all be due to a mast cell disorder. The table below from a recent paper by Dr Afrin and a group of international colleagues summarises the range of symptoms that have been associated with inappropriate mast cell activation.

There remain many unanswered questions and controversies about mast cell function and dysfunction, as well as reportedly associated conditions like hEDS and POTS (Postural Orthostatic Tachycardia Syndrome), but health practitioners who understand the physiology and current research can begin to recognise the possibility of the involvement of altered mast cell function in a patient’s symptoms. The efforts of clinicians and researchers should see continued advances in diagnosis and management of these individuals with the potential for significant positive impacts. Excitingly, the discussion stimulated by the lecture among members of our Hypermobility Special Interest Group holds promise of developing the clinical care of those with MCAS in Australia even further. Hopefully this will help in the efforts to reduce the long delays patients often experience in reaching a diagnosis and effective treatment.

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