Medical & Clinical Research

Author(s): Dr Malini Alexander, Dr Augustus Kigotho

There are over 200 Heritable Disorder of Connective Tissue (HCTDs). These conditions are heterogenous and can present with a multitude of pernicious signs and symptoms. HCTDs conditions are not commonly associated with emergency medicine and their relevance to emergency department presentations frequently goes unrecognised. There is a paucity of formal data on presentations relating to these conditions in emergency medicine, as only life -threatening complications are currently recognised. There is a lack of formal training in medicine on how to recognise the clinical signs and history that could represent a possible HCTD, especially in emergency department contexts. The authors present 7 case studies of patients with known and possible HCTDs who presented with a wide variety of complaints. These included chest pain, syncope, spontaneous arterial dissection, spontaneous pneumothorax, severe dysmenorrhea and dysphagia. The presenting complaints are discussed with relevance to HCTDs and a proposed clinical tool for identification of HCTDs in the Emergency Department. This tool requires validation for use in clinical settings. Further research is required to establish the frequency of problems relating to HCTDs in emergency medicine. Education on HCTDs is recommended. Testing of the clinimetric properties of the proposed screening tools for identification of HCTDs in the emergency department is required.