Hughes Syndrome: A Patient’s Guide

In addition, an increased risk of adverse obstetrical and maternal consequences of steroid therapy including the premature rupture of membranes, preterm delivery, fetal growth restriction, infection, pre-eclampsia, gestational diabetes, maternal osteopenia, and avascular necrosis have been demonstrated consistently [ Laskin et al. Plasmapheresis is used to remove aPL antibodies in an attempt to avoid spontaneous abortion in women with multiple previous miscarriages [ Frampton et al.

The antimalarial drug, hydroxychloroquine, appears to reverse platelet activation induced by human immunoglobulin aPL antibodies and decrease the thrombogenic properties of aPL antibodies in mice [ Espinola et al. This agent also appears to decrease aCL levels in humans [ Toubi et al. No teratogenicity has been described with the use of hydroxychloroquine in pregnant women with SLE [ Motta et al.

Although the available literature suggests that patients with definite APS with first venous thrombosis should be treated with warfarin to an INR 2. In both these situations, in the absence of precise guidelines, we suggest the patient be treated with warfarin in a similar manner to a patient who follows the clinical and laboratory criteria for APS. The overall risk of thrombosis is increased in patients with aPL antibodies [ Levine et al. Thus, it is very difficult to discuss primary thromboprophylaxis in asymptomatic aPL carriers.

However, there are some limitations that influence the conclusions of the APLASA study, that is, the small number of patients included, the recruitment of patients with primary and secondary APS, and the inclusion of patients with a lower risk immunological profile. Therefore, the existing data are not sufficiently exhaustive to suggest the optimal preventive therapy in aPL carriers. It is not possible to predict which patients will have thromboembolic events but it is important not to underestimate the higher thrombotic risk inherent in some situations in which factors other than aPL antibodies are effective e.

Current treatment for APS is only partially effective and new therapies are urgently needed. To date, insufficient data on the use of these approaches exist to guide therapeutic recommendations. Autologous HSCT is currently being evaluated as a new treatment for autoimmune diseases, including SLE, that are associated with a very severe prognosis.

The rationale for autologous HSCT in autoimmune diseases lies in the hypothesis that vigorous immunoablation can induce profound alterations of the immune system affecting B and T cells, monocytes, and natural killer and dendritic cells, resulting in the elimination of autoantibody-producing plasma cells and the induction of regulatory T cells.

Statkute and colleagues [ Statkute et al. The anti-CD20 antigen represents an ideal target for the immunotherapy of B-cell lymphomas and B-cell-mediated autoimmune diseases such as idiopathic thrombocytopenic purpura, rheumatoid arthritis, and SLE [ Shaw et al. B cells may also be key contributors in the immunopathogenesis of APS: A review of the literature revealed that only 12 case reports on the use of rituximab in patients with primary, secondary, and catastrophic APS have been published. Current knowledge clearly suggests the need for further clinical trials to evaluate the effect of rituximab in the treatment of resistant APS [ Erre et al.

In December the first report was published of a patient with APS without thrombocytopenia showing functional improvement after rituximab therapy and supports the growing body of evidence favoring the use of rituximab [ Adamson et al. The potential of both HSTC and rituximab-related B-cell depletion in APS appears promising but further investigation is required to evaluate the safety profile of these procedures and to identify the patients suitable for these aggressive therapeutic approaches.

We consider that, at the moment, refractory APS and catastrophic APS could be the appropriate targets for these groundbreaking therapies. Catastrophic antiphospholipid syndrome CAPS is a severely acute form of APS characterized by rapid onset thromboses mainly affecting the small vessels and leading to a multiorgan failure in the presence of aPL antibodies. Since it is now known that the pathogenesis of CAPS is related to complex interactions between coagulation and inflammation with the essential involvement of aPL antibodies [ Belmont, ], the rationale for treatment is to prevent thrombosis by anticoagulation, to suppress the uncontrolled effects of cytokines and pro-inflammatory mediators, and obviously to halt the production of autoantibodies.

In other words, therapy consists of a combination of anticoagulant and immunosuppressive agents such as corticosteroids and cyclophosphamide, or plasmapheresis. Analysis of reported cases of CAPS showed that older age and a higher number of involved organs are associated with death.

Unfortunately, a second analysis did not achieve the same results [ Asherson et al. The dramatic course of CAPS requires close attention and, in addition to the medical therapies, intensive care measures are pivotal in the survival of these patients. The management of APS focuses on antithrombotic therapies and anticoagulation, however, there are many unanswered questions regarding the best practice for aPL-positive patients owing to difficulties in describing the wide clinical and serological spectrum of the syndrome.

In accordance with recent reviews [ Tuthill and Khamashta, ], patients with definite APS with first venous thrombosis should be treated with warfarin at a target INR of 2. It is possible that future studies, based on randomized controlled studies that recruit larger numbers of patients, could result in changes in these recommendations. National Center for Biotechnology Information , U. Ther Adv Musculoskelet Dis. Author information Copyright and License information Disclaimer. Pini, Via Pini, 9, Milan, Italy ti.

This article has been cited by other articles in PMC. Updated clinical and laboratory criteria. Clinical criteria Vascular thrombosis One or more clinical episodes of arterial, venous, or small vessel thrombosis in any tissue or organ confirmed by imaging studies, Doppler studies, or histopathology without significant vessel wall inflammation. One or more premature births at less than 34 weeks gestation due to severe pre-eclampsia, eclampsia, or placenta insufficiency.

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Three or more unexplained consecutive spontaneous abortions at less than 10 weeks gestation, excluding maternal anatomic or hormonal abnormalities and paternal and maternal chromosomal causes. In research studies of patient populations that contain more than one type of pregnancy morbidity, investigators are strongly encouraged to stratify subjects according to the three groups above. Prolonged phospholipid-dependent coagulation e.

Open in a separate window. Management of thrombosis After a first episode of thrombosis, patients with aPL antibodies have a higher risk of recurrent thrombosis than patients without the antibodies. Management of pregnancy Women with the APS are at increased risk for miscarriages and recurrent fetal loss, especially after 10 weeks of gestation [ Ruiz-Irastorza, ]. Therapeutic dilemmas Although the available literature suggests that patients with definite APS with first venous thrombosis should be treated with warfarin to an INR 2. Treatments under investigation Current treatment for APS is only partially effective and new therapies are urgently needed.

Introduction

Catastrophic antiphospholipid syndrome management Catastrophic antiphospholipid syndrome CAPS is a severely acute form of APS characterized by rapid onset thromboses mainly affecting the small vessels and leading to a multiorgan failure in the presence of aPL antibodies. Conclusions The management of APS focuses on antithrombotic therapies and anticoagulation, however, there are many unanswered questions regarding the best practice for aPL-positive patients owing to difficulties in describing the wide clinical and serological spectrum of the syndrome.

Clinical and laboratory features of 50 patients. Clues to the pathogenesis from a series of 80 patients. Catastrophic antiphospholipid syndrome , In: The Pregnancy Loss Study Group. Am J Obstet Gynecol Clinical and immunological manifestations and patterns of disease expression in a cohort of patients. A collaborative randomized trial comparing predni-sone with low dose heparin treatment. N J Engl Med A systemic review of therapeutic trials.

Cochrane Database Syst Rev Apr 18 ; 2. A randomized, double-blind, placebo-controlled trial in asymptomatic antiphospholipid antibody-positive individuals.

Return to Book Page. Case Studies for Patients by Graham R. Along with AIDS, antiphospholipid syndrome was the major medical discovery of the late 20th century, so for many it is still deemed a new disease. The discovery of sticky blood commonly known as antiphospholipid syndrome or Hughes Syndrome came out of years of observation of patients who had developed lupus. Many specialists in the s were interested in the neurologic Along with AIDS, antiphospholipid syndrome was the major medical discovery of the late 20th century, so for many it is still deemed a new disease.

Many specialists in the s were interested in the neurological aspects of lupus, and Dr Hughes, among others, spent a number of years studying the mechanisms of brain inflammation. In the mid s, Hughes observed a number of young women with a form of viral paralysis, where interestingly many of them carried an antibody in their blood actually directed against phospholipid one of the components of brain and spinal cord.

It quickly became apparent that individuals who had "anti-phospholipid antibodies" suffered from a tendency not only to develop brain and spinal cord symptoms, but also a tendency to develop both vein and artery thrombosis.

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As investigation continued it became apparent that these symptoms were not just confined to lupus patients, but occurred in others too, specifically those with severe migraines, with repeated strokes, with memory loss, and in women with recurrent miscarriage. Paperback , 94 pages.

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Management of Antiphospholipid Syndrome

Lists with This Book. This book is not yet featured on Listopia. Feb 05, Helen rated it it was amazing. Essential reading for anyone diagnosed with aps. April rated it it was amazing Apr 15, Anne Sigmon rated it it was amazing Jul 21,