Hughes Syndrome: A Patient’s Guide

Regarding the immunological subset, LA-positive patients have the highest risk of thrombosis [ Galli et al.

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• Ritual and Other Stories;

The transient positivity for aCL antibodies does not increase the thrombotic risk [ Martinez-Berriotxoa et al. Women with the APS are at increased risk for miscarriages and recurrent fetal loss, especially after 10 weeks of gestation [ Ruiz-Irastorza, ]. In addition, there is an increased risk of maternal complications i. Prior to pregnancy, a complete aPL-antibody profile should be performed.

Pregnancy should be discouraged when patients have experienced a thrombotic event in the previous 6 months or in women with untreated hypertension or pulmonary hypertension. During pregnancy, close maternal and fetal monitoring with a multidisciplinary team comprising an obstetrician, rheumatologist and neonatologist are indicated to allow timely intervention in the case of complications and to reduce the possible consequences of premature delivery.

In women with APS visits every 2 weeks are recommended until midgestation and weekly thereafter, also monitoring of blood pressure and urine protein, and frequent ultrasounds to check fetal growth and well being. Several management protocols have been proposed to prevent maternal thrombotic complications and improve pregnancy outcome in women with APS [ Empson et al. However, interpretation of studies in this area is difficult due to a lack of well-designed trials and the clinical complexity of the syndrome, so treatment decisions should be made on an individual basis.

For prevention of fetal loss in women with APS, administration of low-dose aspirin alone has been associated with an increased frequency of successful pregnancy outcome in some studies, but was no better than supportive care in others [ Empson et al. At present, for the management of women with APS, a systematic review of treatments came to the conclusion that heparin, with or without aspirin, is the recommended intervention in APS pregnancy [ Bates et al.

Low-molecular-weight heparin LMWH is now widely used as it is as effective as unfractionated heparin and is associated with fewer side effects such as thrombocytopenia and osteoporosis. Women with laboratory criteria for aPL antibodies and a prior history of arterial or venous thrombosis are at high risk of recurrence and are generally on lifelong anticoagulation with warfarin. Thus, women receiving warfarin before pregnancy should discontinue this therapy because of its teratogenic properties between 6 and 14 weeks of gestation and switch to LMWH at conception.

For patients with particularly severe recurrent thromboses, particularly stroke, warfarin can be restarted after the period of organogenesis is complete [ Pauzner et al. It is recommended that oral anti-coagulation postpartum be resumed by women who received heparin or LMWH antepartum [ Bates et al. The majority of the Advisory Board of the 10th International Congress on aPL antibodies suggested using low-dose aspirin only in pregnant women with the incidental finding of a persistent presence of aCL or LA, without previous pregnancy morbidity or thrombosis [ Tincani et al.

There are no consistent data to guide the post-partum management of women with aPL but no history of prior thrombosis. The American College of Chest Physicians evidence-based clinical practice guidelines concluded that these women are probably at increased risk of developing pregnancy-related venous thrombosis and suggested that they receive postpartum anticoagulation [ Bates et al. Intravenous gamma globulin is an alternative treatment that has been proposed; however, the efficacy of this approach has not been demonstrated [ Triolo et al.

There is no support for the efficacy of glucocorti-coids in reducing the risk of adverse pregnancy outcomes. 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.

Introduction

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.

Account Options

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.

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. 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.

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