Maaike de Fost

Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease

Current knowledge of the haematological and onco‐haematological complications of type 1 Gaucher disease has been reviewed with the aim of identifying best clinical practice for treatment and disease management. It was concluded that: (i) Awareness of typical patterns of cytopenia can help clinicians distinguish haematological co‐morbidities. (ii) Red blood cell studies and complete iron metabolism evaluation at baseline are recommended. (iii) Haemoglobin levels defining anaemia should be raised and used in Gaucher disease treatment and monitoring. (iv) Surgeons should be aware of potential bleeding complications during surgery in Gaucher patients.

Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy

In Gaucher disease type I (GD, OMIM #230800), deficient activity of the enzyme glucocerebrosidase results in hepatosplenomegaly, cytopenia and skeletal disease.[1][1] Skeletal disease leads to chronic bone pain and/or severe complications such as pathological fractures, avascular necrosis and bone

Interleukin 12 in Part Regulates Gamma Interferon Release in Human Whole Blood Stimulated with Leptospira interrogans

ABSTRACT Heat-killed pathogenic Leptospira interrogans serovar rachmati induced the production of gamma interferon (IFN-γ) and the IFN-γ-inducing cytokines interleukin-12p40 (IL-12p40) and tumor necrosis factor alpha in human whole blood in vitro. The production of IFN-γ was largely dependent on IL-12. These data establish that pathogenic leptospires can stimulate the production of type I cytokines involved in cellular immunity.

Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose – response relationships

Background: Enzyme therapy for Gaucher disease has improved the lives of many patients, by reducing the burden of their disease. Several studies have sought to determine to what extent optimal clinical outcomes are a function of the prescribed enzyme dose and its resultant costs. Objective: Issues concerning dose – response relationships during initial and maintenance treatment phases and currently applied treatment goals have been addressed. Methods: All studies that aimed to describe the efficacy of different doses of treatment and approaches for maintenance, such as lowering the dose or changing to less frequent infusions and the effects of drug interruptions, were reviewed. Results/conclusion: Dose – response relationships do exist, but doses between 30 and 60 U/kg per month may be sufficient in a large majority of patients. Goals of treatment should include important clinical end points, such as enhanced quality of life and decreased risk for malignancies and other morbidities. The relationship between these important end points and treatment schedules deserve further study.

Hematologic and Hemato-Oncologic Aspects of Gaucher Disease

S88 Volume 29 Supplement C Hematologic and Hemato-Oncologic Aspects of Gaucher Disease Derralynn Hughes, MA, DPhil, MRCP, MRCPath1; Maria Domenica Cappellini, MD2; Marc Gabriel Berger, MD, PhD3; Jan Van Droogenbroeck, MD4; Maaike de Fost, MD5; Dragana Janic, MD, PhD6; Theodore Marinakis, MD, PhD7; Hanna Rosenbaum, MD8; Jesus Villarubia, MD, PhD9; Elena Zhukovskaya, MD10; and Carla Hollak, MD5 1Lysosomal Storage Diseases Unit, Department of Academic Haematology, Royal Free Hospital and University College Medical School, London, United Kingdom; 2Department of Internal Medicine, Policlinico Foundation IRCCS, University of Milan, Milan, Italy; 3Department of Hematology, CHU Hotel-Dieu, Clermont-Ferrand, France; 4Department of Hematology, AZ St. Jan AV, Brugge, Belgium; 5Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; 6University Children’s Hospital, University of Belgrade, Belgrade, Serbia; 7The Hellenic Collaborative Working Group of Hematologists on Gaucher Disease, Athens, Greece; 8Department of Hematology and Bone Marrow Transplantation, Rambam Medical Center and Bruce Rappaport Faculty of Medicine, Haifa, Israel; 9Ramon and Cajal Hospital, Servicio de Hematologia, Madrid, Spain; and 10State Medical Academy, Chelyabinsk, Russia