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Antibodies and diagnostic tests in antiphosholipid syndrome

Antiphospholipid syndrome as an autoantibody–mediated disease Antiphospholipid syndrome (APS) is the most recent example of an autoantibody-mediated disease. Indeed, antibodies directed against phospholipid (PL)-binding proteins—the antiphospholipid antibodies (aPL)- not only are significantly associated with both vascular and obstetric manifestations of the syndrome but also mediate pathogenic pathways. aPL trigger thrombotic events only occasionally and in association with additional thrombophilic factor, suggesting that a “second hit” is…

Pathogenesis of antiphospholipid syndrome

Introduction The presence of antiphospholipid antibodies (aPL) is the defining feature of antiphospholipid syndrome (APS), a systemic disorder clinically characterized by widespread thrombosis and obstetric complications. Despite their name, the majority of aPL associated with APS are directed against phospholipid-binding plasma proteins, among them β2-glycoprotein I (β2GPI) and prothrombin are recognized as the most relevant antigenic targets. In the laboratory, aPL can be broadly categorized into…

Vasculitis in lupus

Prevalence and associated features of vasculitis in lupus It is difficult to obtain exact figures for the prevalence of vasculitis in lupus, as the definition of what constitutes vasculitis differs between different authors. A recent review cites a prevalence of 11% to 36%. Most of the evidence comes from large retrospective studies in single centers. Drenkard et al. in 1997 reported on a cohort of 540 Mexican…

Drug-induced lupus

Introduction and historical perspective Typical drug-induced lupus (DIL) was first reported by Morrow and coworkers in which a late onset “collagen disease” resembling systemic lupus erythematosus (SLE) developed in 17 out of 211 hydralazine-treated patients and by Dustan and coworkers in which 13 out of 139 patients on hydralazine developed constitutional and rheumatologic symptoms. Eight years later Ladd reported a patient who developed lupus-like features after…

Lupus in children

Childhood-onset disease represents a substantial portion of systemic lupus erythematosus (SLE). Although pathophysiology, disease manifestations, and treatment strategies are generally similar to those of adult patients, there are some unique considerations in the diagnosis and management of pediatric lupus. Epidemiology Among all patients with SLE, it is estimated that 10%-20% have onset in childhood. Definition of childhood-onset, or pediatric SLE (pSLE), however, varies by study as…

Incomplete lupus syndromes

Definition Classification criteria for systemic lupus erythematosus (SLE) have been widely utilized in the study of this disease, enabling clinical trials, and new drug approvals. Although not intended to be used as diagnostic criteria, these lists of clinical and laboratory findings are often referred to in clinical practice when trying to determine if a patient has SLE. The starting point for most of these patients is…

Neonatal lupus: Clinical spectrum, biomarkers, pathogenesis, and approach to treatment

Introduction Fetal exposure to maternal autoantibodies transported across the human placenta via FcγRn can result in a spectrum of organ injury: transient if the tissue has regenerative capacity and permanent if this capacity is absent or limited. An important example of passively acquired autoimmunity in a fetus and neonate is that of neonatal lupus (NL) given the concordance between circulating maternal antibody in the fetus and…

Fertility and pregnancy in systemic lupus erythematosus

Systemic lupus erythematosus—A manual Systemic lupus erythematosus (SLE) is a disease of reproductive aged women; as a result, family planning issues such as fertility and pregnancy are an important component of the management of SLE patients. For many years, women who had systemic lupus erythematosus were counseled against becoming pregnant. This directive was informed by the belief that the hormonal and immunologic changes of pregnancy would…

Systemic lupus erythematosus and the eye

Introduction Ocular involvement is common in systemic lupus erythematosus (SLE), with around one-third of patients being affected to some extent. Ophthalmic features are protean, with the most common complication is dry eye syndrome, which, though it may cause significant discomfort, is usually responsive to treatment and rarely affects vision. Sight-threatening complications of SLE are uncommon and include retinal vaso-occlusive disease, scleritis, and optic neuropathy ( Table 51.1…

Overlap syndromes

Introduction Overlap syndromes are conditions in which patients have concurrent clinical manifestations of multiple distinct immune diseases. A relatively common example of an overlap syndrome is mixed connective tissue disease (MCTD), in which antismall nuclear ribonucleoprotein (snRNP, or RNP) antibodies occur along with manifestations of at least two of the following: lupus, myositis, rheumatoid arthritis, and/or scleroderma. Patients with overlap syndromes need not meet classification criteria…

The nervous system in systemic lupus erythematosus

Introduction The immune dysregulation observed in lupus can damage every level of the nervous system ( Fig. 49.1 ). To complicate matters, neurological disease in lupus is not limited to direct immunological damage and can arise from comorbid disease, or as a complication of therapy. As a result, neurological disease in lupus is heterogeneous, complex, and poorly understood. “Neurolupus” is perhaps the simplest term to use to…

Malignancies in systemic lupus erythematosus

Introduction Many studies have shown unique cancer profiles for patients with autoimmune conditions such as rheumatoid arthritis (RA), Sjögren's syndrome, scleroderma, and systemic lupus erythematosus (SLE). Much of the data on cancer in SLE in general, and hematologic cancers specifically, comes from a very large (over 16,000 patients) multi-center international study of clinical SLE cohorts (which we will refer to later in this article). Although the…

Systemic lupus erythematosus and infections

Introduction Infections represent a significant contributor to morbidity and mortality among patients with systemic lupus erythematosus (SLE). Inherent dysfunction in innate and adaptive immune responses as well as chronic immunosuppressive treatment begets vulnerability to acute and chronic infections. Patients with SLE may also face separate challenges related to accrued end-organ damage, functional hyposplenism, and reticuloendothelial system flaws. These further hamper the ability to defend against infections.…

Gastrointestinal, hepatic, and pancreatic disorders in systemic lupus erythematosus

Introduction Gastrointestinal (GI) manifestations of systemic lupus erythematosus (SLE) are protean ( Table 46.1 ). Clinical features are noncharacteristic and must be distinguished from infective, thrombotic, therapy-related, and nonSLE causes. Appropriate imaging investigations, endoscopic procedures, and biopsies are indicated. Early recognition and intervention help reduce mortality and morbidity. Table 46.1 Gastrointestinal and hepatic manifestations of lupus. Oral cavity Oral ulceration Mucosal discoid lupus Sicca symptoms Chronic periodontitis…

The lung in systemic lupus erythematosus

Introduction Systemic lupus erythematosus (SLE) is an autoimmune disorder that can affect virtually every organ of the body, including the lung. Depending on the sensitivity of the tools used to detect disease and the populations studied, the incidence of pulmonary involvement in SLE varies. However, it is likely that 60% and higher of SLE patients experience lung involvement at some stage in the course of their…

Cardiovascular disease in systemic lupus erythematosus: an update

Burden of cardiovascular disease in lupus Despite therapeutic advances, cardiovascular disease (CVD) remains a major cause of morbidity and mortality in systemic lupus erythematosus (SLE, lupus). Although a nationwide population-based study from 1968–2013 found improving mortality in SLE, with a consistent downtrend since 1999, SLE-related mortality continues to remain high compared to non-SLE-related mortality. Furthermore, significant disparities in mortality based on sex, race/ethnicity, age, and geographic…

The pathology of lupus nephritis

Introduction The kidney, an “innocent bystander” in the pathogenesis of SLE, nevertheless bears the brunt of the morbidity and mortality of the disease. Indeed the majority of patients with lupus eventually develop some degree of renal involvement, which in some cases precedes (occasionally by years) the diagnosis of SLE. This clinically oriented chapter will focus on the varied expressions of SLE associated renal disease, their classification…

The clinical evaluation of kidney disease in systemic lupus erythematosus

Introduction Kidney disease is common in patients with systemic lupus erythematosus (SLE). This is most often due to lupus nephritis (LN). LN is one of the major causes of morbidity and mortality in SLE patients and is associated with poorer outcomes than in those patients with no kidney involvement. This poor prognosis is explained only in part by the risk of chronic kidney disease (CKD) and…

Cutaneous lupus erythematosus

Epidemiology Cutaneous manifestations occur in approximately 75% of patients with systemic lupus erythematosus (SLE) during the course of the disease and are the first sign in about 25% of patients. Epidemiological data of the different subtypes of cutaneous lupus erythematosus (CLE) have rarely been investigated, as most studies rather evaluate the incidence of SLE. In 2007, a study from Stockholm County, Sweden, reported that subacute cutaneous…

The musculoskeletal system in SLE

Along with cutaneous disease, musculoskeletal manifestations predominate in SLE with large series observing more than a 90% cumulative involvement, whereas some musculoskeletal complications, such as myositis and arthritis, reflect disease activity, others, such as osteonecrosis and osteoporosis, are typically adverse effects of treatment. In this chapter, we review common musculoskeletal manifestations that affect patients with SLE. Arthritis Clinical trials confirmed the high prevalence of arthritis in…