Elsevier

Autoimmunity Reviews

Volume 1, Issues 1–2, February 2002, Pages 43-48
Autoimmunity Reviews

Hughes syndrome crosses boundaries

https://doi.org/10.1016/S1568-9972(01)00005-2Get rights and content

Abstract

Hughes (antiphospholipid) syndrome is a condition in continuous evolution. Since it was first described almost 20 years ago, significant advances in its diagnosis and management have been made. Recently, classification criteria for definite antiphospholipid syndrome have been proposed and validated. However, there is still controversy regarding issues such as the utility of new diagnostic tests (detecting antibodies to β2-glycoprotein I, phospholipids other than cardiolipin or phospholipid mixtures), the role of antiphospholipid antibodies in neurological conditions such as demyelinating disease, cognitive impairment or migraine and the optimal management of thrombosis and obstetric manifestations. These are all briefly discussed in this review.

Introduction

The recognition that a number of manifestations of systemic lupus erythematosus (SLE) have a thrombotic rather than inflammatory basis can be considered one of the most important recent contributions to clinical Rheumatology and Immunology. The anticardiolipin syndrome’ described by Graham Hughes in the early 1980s [1], subsequently changed to antiphospholipid syndrome (APS) — or Hughes syndrome — proved to be a frequent condition in patients with lupus [2], but also present in others without SLE or other classifiable autoimmune disease. In these cases it was called the ‘primary’ antiphospholipid syndrome (PAPS) [3].

Now almost 20 years old, APS has crossed boundaries between many fields of medicine. Clinical manifestations bring together rheumatologists, neurologists, obstetricians, hematologists, cardiologists, nephrologists, etc. The full spectrum of this syndrome is still to be defined.

Significant advances in the diagnosis and management of patients with APS have been made. However, there is not complete consensus in very important questions such as use of tests alternative to anticardiolipin antibodies (aCL) and lupus anticoagulant (LA) assays, treatment of pregnancy failure or intensity of anticoagulant therapy, among other examples. These and other issues will be briefly discussed in this review.

Section snippets

Classification criteria

A panel of experts joining the 8th International Symposium on antiphospholipid antibodies (aPL) at Sapporo [4] has recently established the preliminary criteria for the classification of definite APS (Table 1). Clinical criteria include arterial, venous and/or small vessel thrombosis as well as recurrent (three or more) miscarriage, one fetal death or prematurity due to severe pre-eclampsia or placental insufficiency. Laboratory criteria only consider aCL at medium–high titers or LA, any of

Antiphospholipid antibody testing

The laboratory is crucial in the identification of patients with APS. Clinical suspicion based on recurrent thrombosis, miscarriage or other features of APS must be always confirmed by positive tests that detect the presence of aPL. Ideally, these tests must have high sensitivity and specificity. Also, standardisation and a high level of intra and inter-laboratory agreement is desirable, hence patients tested at different times and places do not exhibit different results.

The two more

Clinical features

‘Classical’ clinical features associated with APS include recurrent thrombosis and pregnancy losses. APS is unique among thrombophilias in causing arterial and venous thrombosis with similar frequency. Recurrent thrombosis is common in untreated patients with APS, frequently taking place in the same vascular bed (arterial or venous) as the initial event [11]. Women with APS may experience a high rate of pregnancy failure. Although early miscarriage is common, APS is characterised by the

Therapy

Therapy of Hughes syndrome is based on anticoagulant and antiaggregant drugs [32]. Corticosteroids play only a marginal role in the management of APS-limited to haematological manifestations such as thrombocytopenia and haemolytic anaemia and life-threatening conditions such as catastrophic APS and myelopathy [33]. Early attempts at suppressing aPL production by immunosuppressive treatment were not beneficial [34].

The optimal treatment for recurrent pregnancy losses in APS is still debated.

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