A B Mehta

..We highlight a need to develop comprehensive international guidelines to optimize ERT and adjunctive therapy in patients with Fabry disease, including females and children...

..Patient support organisation (Myeloma UK) and Hospital Myeloma Clinic...

..Fabry disease is X-linked, but women are often symptomatic and may be as severely affected as men...

..This paper provides an update on the first analysis of FOS data...

..We analysed 5-year treatment with agalsidase alfa enzyme replacement therapy in patients with Fabry's disease who were enrolled in the Fabry Outcome Survey observational database (FOS)...

..This paper presents the first analysis of the FOS database and provides essential baseline data against which the effects of enzyme replacement can be measured...

..CONCLUSION: ERT currently remains the most effective treatment for Gaucher disease. New treatments are emerging, but deficiencies in understanding basic pathophysiological mechanisms hinder progress...

..Furthermore, the database has demonstrated that significant renal or cardiac disease often co-exists with cerebrovascular disease, and may predispose patients with Fabry disease to neurological disability and stroke...

..This review provides an overview of current issues in the diagnosis and treatment of patients with Fabry disease and considers what may lie ahead in this rapidly evolving therapeutic area...

..Fabry disease (also known as Anderson-Fabry disease) is a rare, X-linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body...

..The present study was designed to assess the safety and efficacy of enzyme replacement therapy with agalsidase alfa on the cardiac manifestations of Anderson-Fabry disease...

..Pharmacological blockade of this pathway may have potential in the development of novel therapeutic strategies for B-CLL treatment...

..Oral miglustat should be considered for the treatment of patients with type I GD and concurrent movement disorders who are unsuitable for ERT...

..Patients with AFD develop progressive left ventricular (LV) remodelling and heart failure. We hypothesized that altered extracellular matrix (ECM) turnover contributes to the pathophysiology of cardiac disease in AFD...

..It also raises the question of whether the presence of multiple cherry angiomas in patients with cardiac disease should raise the possible diagnosis of FD...

..Finally, in our cohort of patients, the presence of related or unrelated IGH clones did not influence overall survival...

..It is therefore an important advance in developing new treatment options for these patients...

..We conclude that IL2 may be used in minimal residual haematological malignancy, and by producing anti-neoplastic effector cells has the potential, as yet unproven, to prolong disease-free survival of patients entering remission...

..Only 4 (9%) patients chose to continue receiving infusions in hospital. The majority of patients with Fabry disease and Gaucher disease found home-based therapy to be more convenient and less stressful than hospital-based therapy...

..No other significant toxicity was reported in a total of 164 cycles of Fludarabine. This agent is active in advanced low grade lymphoid malignancy. Further studies are required to assess its role in newly diagnosed patients...

..All four patients have had excellent outcomes from liver transplantation for up to 10 years postprocedure with no evidence of Gaucher-related pathology in the graft...

..To describe the nature and prevalence of hearing loss in Fabry disease, and its response to enzyme replacement therapy (ERT) with agalsidase alfa...

..alpha-Galactosidase A replacement therapy with agalsidase alfa appears to reverse the hearing deterioration in these patients. This improvement is gradual, however, suggesting the need for long-term enzyme replacement therapy...

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..Myeloma is a serious and usually fatal haematological malignancy with reported mortality of 10-20% within the first 2 months of presentation. Symptoms are non-specific, and patients thus present to a range of medical practitioners...

..However, Fas-independent activation of caspase 8 may play a crucial role in the regulation of apoptosis in these cells...

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..Preliminary evidence suggests that ERT may have beneficial effects on the vascular component of this multisystem disease...

..Treatment was formerly entirely symptomatic, but enzyme replacement therapy has recently been licensed and management is evolving from genetic counselling and palliative care to early diagnosis and active intervention...

..In conclusion, these four interventions have not improved outcomes in older patients. New agents need to be explored and novel trial designs are required to maximise prospects of achieving timely progress...

..We have ascertained three pedigrees with PROP1 mutations from a large cohort of patients with variable degrees of CPHD who were screened for mutations in PROP1...

..Home therapy requires a well organized and regulated community infrastructure, individual assessments of patient suitability and protocols for management of possible infusion associated reactions...

..6%), deletions (17.8%) or insertions/duplications (5.6%) of a few nucleotides, and complex rearrangements including larger deletions (2.2%). GLA mutations were identified in 82 (97.6%) of the 84 unrelated male patients...

..We compared the frequency of a binary endocardial appearance in patients with hypertrophic cardiomyopathy (HCM) and Anderson-Fabry disease (AFD)...

..This finding may be of clinical relevance, because anemia is a major risk factor for patients with kidney disease, heart failure, or stroke, which are important manifestations of Fabry disease...

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..This produces progressive lysosomal accumulation of globotriaosylceramide throughout the body, leading to organ failure and premature death...

..Except for clearance in younger patients, agalsidase alpha appears to have comparable pharmacokinetic and pharmacodynamic profiles in pediatric and adult Fabry patients of both genders...

..To assess the prevalence of Fabry disease in young patients with cryptogenic stroke...

..The aim of this study was to determine the prevalence and characteristics of cardiac disease in AFD patients...

..The recent availability of enzyme-replacement therapy with agalsidase alfa offers specific treatment for this serious, progressive condition...

..Fabry disease is a multisystemic life-threatening lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Symptoms of the disease may occur in different organs including kidney, heart, and the nervous system...

..We describe a patient with a defect in the death domain of the FAS molecule who had autoimmune thrombocytopenia resistant to conventional therapy but which responded to a combination of rituximab and vincristine...

..We have undertaken a single centre, open-label, multi-dose, exploratory Phase II clinical trial of PKC412 in patients with CLL and low grade NHL...

..CONCLUSIONS: These observations suggests that myocardial fibrosis occurs in AFD and may contribute to the hypertrophy and the natural history of the disease...

..Thus, GCs represent a distinctive population of myeloid cells that resemble aamphi but differ from previously described in vitro aamphi...

..These findings indicate that the axons were mildly depolarized, probably due to ischemia, and are consistent with the hypothesis that poor nerve perfusion in Fabry disease contributes to axonal damage...

..CONCLUSIONS: This study revealed a high prevalence of uncontrolled hypertension among patients with Fabry disease. Thus there is a need to improve BP control and renoprotection in patients with Fabry disease...

..Fabry's disease is an X-linked lysosomal storage disorder characterised by deficient activity of the enzyme alpha-galactosidase A...

..However, because discrimination from healthy controls is too low, no key role in the diagnostic process can be expected...