Investigating Rare Haematological Disorders – A Celebration of 10 Years of the Sherlock Holmes Symposia
Authors: Cappellini Maria-Domenica ,   Universita di Milano, Ca Granda Foundation IRCCS, Milan, Italy, Cassiman David ,   Department of Gastroenterology-Hepatology, Metabolic Centre, University Hospitals Leuven, KU Leuven, Belgium, Marinakis Theodoros ,   Department of Clinical Haematology, General Hospital of Athens “G. Gennimatas”, Athens, Greece, Rosenbaum Hanna ,   Ramban Medical Centre and Bruce Rappaport Faculty of Medicine, Haifa, Israel, Bauduer Frederic ,   Laboratoire Maladies rares, génétique et métabolisme, EA 4576, Université de Bordeaux, Bordeaux, France, Bjerrum Ole Weis ,   Department of Haematology, University Hospital of Copenhagen Rigshospitalet, Copenhagen, Denmark, Fraga Cristina ,   Department of Haematology, HDES Hospital, Ponta Delgada, Açores-Portugal, Hughes Derralynn ,   Department of Haematology, Royal Free London NHS Foundation Trust and University College London, London, UK, Jäger Ulrich ,   Medical University of Vienna, Department of Internal Medicine I, Division of Haematology and Haemostaseology, Vienna, Austria, Machaczka Maciej ,   Haematology Center Karolinska and Department of Medicine at Huddinge, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden, Massenkeil Gero ,   Department of Internal Medicine, Klinikum Gütersloh, Germany, Mehta Atul ,   Royal Free Hospital and University College London Medical School, Lysosomal Storage Disorders Unit, London, UK, Vallejo Carlos ,   Programa de Trasplante Hematopoyético, Hospital Universitario de Donostia, San Sebastián, Spain, Droogenbroeck Jan Van ,   Department of Haematology, AZ Sint Jan Hospital, Brugge, Belgium, Wondergem Mariëlle ,   VU University Medical Center, Amsterdam, the Netherlands, Huijgens Peter ,   VU University Medical Center, Amsterdam, the Netherlands, Villarrubia Jesús ,   Servicio de Hematología y Hemoterapia, Hospital Universitario Ramón y Cajal, Madrid, Spain
Published: June 2016

The Sherlock Holmes symposia have been educating haematologists on the need for prompt recognition, diagnosis and treatment of rare haematological diseases for 10 years. These symposia, which are supported by an unrestricted educational grant from Sanofi Genzyme, encourage haematologists to consider rare disorders in differential diagnoses. Improvement in rare disease awareness is important because diagnostics and the availability of effective therapies have improved considerably, meaning that rare haematological diseases can be accurately diagnosed and successfully managed, particularly if they are identified early. The Sherlock Holmes symposia programme includes real-life interactive clinical cases of rare haematological disorders that require awareness from the physician, to be diagnosed at an early stage. The audience are encouraged to examine each case as if they were detectives, look for clues from the clinical history and presentation, consider the potential causes, assess which tests would be required to make a definitive diagnosis and suggest optimal treatment options. To celebrate the 10-year anniversary of the Sherlock Holmes symposia, this article describes a number of clinical cases that include anaemia, thrombocytopaenia and splenomegaly among the presenting symptoms, to illustrate the importance of rigorous differential diagnosis in the identification of rare haematological disorders.