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Volume 8, Issue 2 (Suppl) J Blood Disord Transfus
ISSN: 2155-9864 JBDT, an open access journal Hematologists 2017
May 08-09, 2017
7th World Hematologists Congress
May 08-09, 2017 Barcelona, Spain
A need for thrombotic thrombocytopenic purpura (TTP) specialist centers – providing better outcomes
Tina Dutt
Royal Liverpool University Hospital, UK
Thrombotic thrombocytopenic purpura (TTP) is heralded by its demanding presentation and impending mortality. The
complex and life-threatening characteristics of TTP justify the need for early referral and responsive management in centers
with comprehensive multi-disciplinary resources. In an era where compromise of patient safety or experience is unsatisfactory, the
provision of specialist-led, organized care for this patient group remains overdue. Patients and clinical teams continue to lack the
knowledge, support and resources required to achieve consistently high levels of clinical care. This forms the rationale for development
of TTP Specialist Centers. Following an internal review the existing governance framework for managing patients at a tertiary
referral hospital, it was confirmed that patients with suspected TTP were experiencing significant delays in diagnosis and treatment
resulting in death. Acute service redesign led to the development of a regional TTP Specialist Centre facilitating acute coordinated
care and centralization of resource and expertise. Tangible improvements in critical parameters were demonstrated including time to
diagnosis, time to line insertion, time to plasma exchange and overall survival. Further understanding of how the evolution of TTP
Specialist Centers diverges from an ad hoc approach to managing this vulnerable patient group offers promise in the translation to
improved patient outcomes globally.
Polycythemia rubra vera in patient with Gaucher disease
Zlate Stojanoski
University Clinic of Hematology, Macedonia
Introduction: Gaucher disease (GD) is the most common genetic lysosomal storage disorder. It is an autosomal recessive disorder
defined by the presence of two mutant alleles for the acid-β-glucosidase gene, located on region q21 of chromosome one. GD is
caused by deficient activity of the enzyme acid-β-glucosidase and is specifically a disease in which macrophages become engorged,
causing the liver and spleen to become enlarged and this results in dysfunction of these organs. GD symptoms are multi-systemic
and can lead to death. Compared to the general population, GD patients have an increased risk of cancer in general (relative risk of
1.70) and multiple myeloma and hematological malignancies in particular (estimated risk between 25.0 and 51.1). Several factors
have been hypothesized to play a role in the pathophysiology, splenectomy, immune dysregulation, altered iron metabolism, chronic
inflammation and chronic B-cell stimulation, abnormalities of T cell function and aberrant polarization of macrophages to the
alternatively activated phenotype. The Janus kinase 2 (JAK2) V617F mutation is known to provide a growth and survival advantage
to the affected clones of hematopoietic cells. It may result in clinical phenotypes of polycythemia vera, essential thrombocythemia
and primary myelofibrosis.
CaseReport:Male patient (S.L) initially presented (1991) at the age of 33 years withmild anemia, thrombocytopenia and splenomegaly.
Gaucher disease type 1 (GD1) was diagnosed based on the findings of Gaucher cells in the bone marrow. Clinically, he has remained
well over a period of 19 years. From year 2010, he received Cerezyme replacement therapy. Five years later, he presented elevation of
Hb, RBC and Hct. The possibility of JAK2 mutation was considered as the cause of raising the level of blood count. PCR-based assay
with allele-specific primers confirmed the presence of the V617F mutation. The diagnosis of polycythemia rubra vera was established.
Conclusion: Testing for JAK2 V617F and other mutations associated with MPN may be useful for investigation of unexpected
changes in patients with GD to confirm the cause when there are suggestive clinical features.
J Blood Disord Transfus 2017, 8:2(Suppl)