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Review Haematology Investigating Rare Haematological Disorders – A Celebration of 10 Years of the Sherlock Holmes Symposia Maria-Domenica Cappellini,1 David Cassiman,2 Theodoros Marinakis, 3 Hanna Rosenbaum, 4 Frederic Bauduer, 5 Ole Weis Bjerrum, 6 Cristina Fraga, 7 Derralynn Hughes, 8 Ulrich Jäger, 9 Maciej Machaczka, 10 Gero Massenkeil, 11 Atul Mehta, 12 Carlos Vallejo, 13 Jan Van Droogenbroeck, 14 Mariëlle Wondergem, 15 Peter Huijgens 15 and Jesús Villarrubia 16 1. Universita di Milano, Ca Granda Foundation IRCCS, Milan, Italy; 2. Department of Gastroenterology-Hepatology, Metabolic Centre, University Hospitals Leuven, KU Leuven, Belgium; 3. Department of Clinical Haematology, General Hospital of Athens “G. Gennimatas”, Athens, Greece; 4. Ramban Medical Centre and Bruce Rappaport Faculty of Medicine, Haifa, Israel; 5. Laboratoire Maladies rares, génétique et métabolisme, EA 4576, Université de Bordeaux, Bordeaux, France; 6. Department of Haematology, University Hospital of Copenhagen Rigshospitalet, Copenhagen, Denmark; 7. Department of Haematology, HDES Hospital, Ponta Delgada, Açores-Portugal; 8. Department of Haematology, Royal Free London NHS Foundation Trust and University College London, London, UK; 9. Medical University of Vienna, Department of Internal Medicine I, Division of Haematology and Haemostaseology, Vienna, Austria; 10. Haematology Center Karolinska and Department of Medicine at Huddinge, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden; 11. Department of Internal Medicine, Klinikum Gütersloh, Germany; 12. Royal Free Hospital and University College London Medical School, Lysosomal Storage Disorders Unit, London, UK; 13. Programa de Trasplante Hematopoyético, Hospital Universitario de Donostia, San Sebastián, Spain; 14. Department of Haematology, AZ Sint Jan Hospital, Brugge, Belgium; 15. VU University Medical Center, Amsterdam, the Netherlands; 16. Servicio de Hematología y Hemoterapia, Hospital Universitario Ramón y Cajal, Madrid, Spain Abstract 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. Keywords Anaemia, cobalamin, enzyme-replacement therapy, Gaucher disease, haematology, haematological malignancy, multiple myeloma, splenomegaly, thrombocytopaenia Disclosure: Maria-Domenica Cappellini is member of advisory boards for Novartis, Sanofi Genzyme and Celgene. On behalf of David Cassiman, the University of Leuven and University Hospitals Leuven have received research grants, travel and conference bursaries, speaker fees and advisory board compensations from Sanofi Genzyme, Shire, Actelion, Bayer, Roche, BMS, Schering-Plough and Synageva; Theodoros Marinakis has received honoraria from Novartis and Sanofi Genzyme; Hanna Rosenbaum has no conflict of interest; Frederic Bauduer has no conflict of interest; Ole Weis Bjerrum has received honoraria for education from Novartis, Pfizer, Bristol-Myers Squibb and Sanofi Genzyme; Cristina Fraga has received funding from Sanofi Genzyme; Derralynn Hughes has received support for travel and research and honoraria for speaking, advisory boards and consultancies from Shire, Sanofi Genzyme, Protalix and Actelion; Ulrich Jäger has received honoraria from Sanofi Genzyme; Maciej Machaczka has received travel support, honoraria for consultancies and educational grants from Actelion, Sanofi Genzyme and Shire HGT. Gero Massenkeil has received honoraria from Sanofi Genzyme; Atul Mehta has received honoraria, travel grants and research funding from Sanofi Genzyme, Shire HGT and Protalix/Pfizer; Carlos Vallejo has been a consultant for Sanofi Genzyme; Jan Van Droogenbroeck has no relevant conflicts of interest to declare; Mariëlle Wondergem and Peter Huijgens have no relevant conflicts of interest to declare. Jesús Villarrubia has received support for travel and research and honoraria for speaking, advisory boards and consultancies from Sanofi Genzyme and Shire. Acknowledgments: Editorial assistance was provided by Michael Lappin, of GK PharmaComm, funded by Sanofi Genzyme. Compliance with Ethics: All procedures were followed in accordance with the responsible committee on human experimentation and with the Helsinki Declaration of 1975 and subsequent revisions, and informed consent was received from the patients involved in these case studies. Open Access: This article is published under the Creative Commons Attribution Noncommercial License, which permits any non-commercial use, distribution, adaptation and reproduction provided the original author(s) and source are given appropriate credit. Received: 4 April 2016 Accepted: 18 May 2016 Citation: European Oncology & Haematology, 2016;12(1):55–61 Correspondence: Maria-Domenica Cappellini. Director, Internal Medicine Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Pad. Granelli - Via F. Sforza, 35 – 20122 Milan, Italy. E: maria.cappellini@unimi.it Support: The publication of this article was supported by Sanofi Genzyme. TOU CH MED ICA L MEDIA 55