Physical Address

304 North Cardinal St.
Dorchester Center, MA 02124

The Systemic Vasculitides

Definition The vasculitides are a heterogeneous group of disorders linked by the common finding of destructive inflammation within blood vessel walls. The most current nomenclature scheme identifies at least 27 different forms of primary vasculitis ( Table 249-1 ). TABLE 249-1 NAMES FOR VASCULITIDES ADOPTED BY THE 2012 INTERNATIONAL CHAPEL HILL CONSENSUS CONFERENCE ON THE NOMENCLATURE OF VASCULITIDES From Jennette JC, Falk RJ, Bacon PA, et al.…

Inflammatory Myopathies

Definition The inflammatory myopathies are a heterogeneous group of acquired disorders in which the immune system is thought to play a major pathogenic role. Though some genetic disorders affecting muscle also have significant involvement of the immune system and are treated with immunosuppressive therapy as the standard of care (e.g., treatment of Duchenne muscular dystrophy with corticosteroids), these genetic disorders are not classified as inflammatory myopathies.…

Sjögren Syndrome

Definition Sjögren syndrome is a systemic autoimmune disease with glandular and extraglandular manifestations. Its cardinal glandular features are keratoconjunctivitis sicca, or dry eyes, and xerostomia, or dry mouth, otherwise known as the sicca complex. Sjögren syndrome can be primary or secondary. It is primary when the sicca complex occurs in the absence of another rheumatologic disease. The term secondary refers to the presence of keratoconjunctivitis sicca…

Systemic Sclerosis (Scleroderma)

Systemic Sclerosis Definition Systemic sclerosis , originally termed scleroderma , is a chronic autoimmune disease of unknown cause associated with considerable morbidity and mortality. The disease shows marked clinical heterogeneity, has protean clinical manifestations, and may follow a stable, indolent, or rapidly progressive course. The hallmark of systemic sclerosis is thickening and hardening of the skin (scleroderma), but the lungs, gastrointestinal tract, kidneys, heart, tendons, and…

Systemic Lupus Erythematosus

Definition Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease that results from immune system–mediated tissue damage. The molecular triggers of the disease are not known, but the pathogenesis involves the production of autoantibodies specific for nucleic acids and nucleic acid–binding proteins. Immune complexes, along with immune system cells and soluble mediators, generate inflammation and tissue damage. Manifestations of SLE can involve the skin, joints, kidney,…

Spondyloarthritis

Common Features of Spondyloarthritis Definition Spondyloarthritis encompasses a group of clinical syndromes that are linked in terms of disease manifestations and genetic susceptibility. The clinical subsets most commonly recognized are ankylosing spondylitis, psoriatic arthritis, reactive arthritis, and enteropathic arthritis ( Fig. 244-1 ). Broadly, spondyloarthritis is grouped into two subsets based on the location of predominantly affected joints: axial spondyloarthritis (dominated by back symptoms) and peripheral…

Rheumatoid Arthritis

Definition Rheumatoid arthritis is a chronic systemic inflammatory disease of unknown etiology that primarily targets synovial tissues. The primary target of rheumatoid arthritis is the joint, but systemic inflammation is thought to be responsible for a variety of coexistent comorbid conditions, including cardiovascular disease, osteoporosis, cognitive dysfunction, psychiatric disease, and cancer. Epidemiology Rheumatoid arthritis is a global disease with a variable geographic prevalence of 0.5 to…

Bursitis, Tendinopathy, Other Periarticular Disorders, and Sports Medicine

Definition An array of painful and sometimes disabling musculoskeletal syndromes exist that are not articular in origin but arise from tendons, ligaments, enthesis, and bursae. These conditions are referred to by various names, in addition to tendinosis, enthesopathy, and bursitis, including the terms nonarticular rheumatism, soft tissue diseases, regional rheumatic pain syndromes, and repetitive use syndromes ( Table 242-1 ). These entities are often ignored, misdiagnosed…

Osteoarthritis

Definition Osteoarthritis is characterized by failed repair of synovial joint tissues after intra-articular stress. The resulting breakdown of cartilage and bone can lead to symptoms of pain, stiffness, and functional disability. However, synovial joint pathology and structural changes on imaging studies may correlate poorly with patient-reported symptoms. Epidemiology Osteoarthritis is a highly prevalent, disabling disease that affects more than 500 million people worldwide, with women disproportionately…

The Systemic Autoinflammatory Diseases

Definition The systemic autoinflammatory diseases ( Table 240-1 ) are a group of disorders that are characterized by seemingly unprovoked inflammation, without evidence of high-titer pathogenic autoantibodies or antigen-specific T cells, thereby distinguishing them from the more classic autoimmune diseases. The first conditions recognized as autoinflammatory were the hereditary recurrent fevers, which are a group of mendelian disorders characterized by episodic or fluctuating degrees of fever…

Inherited Diseases of Connective Tissue

Mucopolysaccharidoses Definition Proteoglycans are ubiquitous components of the extracellular matrix and the surfaces of cells, and they are among the largest and most complex of human molecules. Proteoglycans consist of a protein core to which are covalently bound glycosaminoglycans (GAGs; formerly called mucopolysaccharides) of several types: dermatan sulfate, heparan sulfate, keratan sulfate, and chondroitin sulfate. During normal degradation, these four polymeric molecules are cleaved from their…

Imaging Studies in the Rheumatic Diseases

Advanced rheumatic disorders usually can be well characterized by conventional imaging. However, the development of new therapeutic alternatives for the inflammatory arthritides, so-called disease-modifying antirheumatic drugs (DMARDs), and chondroprotective strategies for osteoarthrosis require methods to diagnose these diseases at an earlier stage, characterize the degree of inflammation, and provide a useful metric to assess therapeutic response ( Chapters 28 and 29 ). Indeed, it has become…

Laboratory Testing in the Rheumatic Diseases

The rheumatic diseases are a diverse group of conditions that affect the musculoskeletal system as well as other organs, where they cause inflammation, damage, and functional impairment. These conditions range from mild joint pain to severe life-threatening manifestations such as systemic vasculitis and rapidly progressive renal failure. The first steps in the diagnostic process include a detailed history, physical examination (especially focused on the joints), and…

Approach to the Patient with Rheumatic Disease

Definition Rheumatic diseases are disorders of connective tissue in which general or localized inflammation is associated with pain, weakness, or loss of function attributable to joints, the spine, muscles, and/or related soft tissues. Systemic features and extramusculoskeletal features include stiffness, fever, weight loss, skin rashes, cardiopulmonary abnormalities, ocular inflammation, and renal dysfunction, often in distinct patterns, and are used to classify each disease. Many of these…

Mastocytosis

Definition Mastocytosis is a heterogeneous group of disorders that are characterized by pathologic accumulation of mast cells in tissues such as skin and bone marrow. Based on clinical presentation and pathologic findings, the World Health Organization (WHO) defines eight distinct categories of mastocytosis ( Table 235-1 ). The term cutaneous mastocytosis describes skin disease alone without any evidence of involvement of internal organs, whereas the term…

Drug Allergy

Definition About 80% of adverse drug reactions are predictable and dose dependent, whereas about 20% are unpredictable and dose independent ( E-Fig. 234-1 ). These latter reactions include immediate and delayed drug allergies and hypersensitivities ( Fig. 234-1 ). Epidemiology Drug allergy has a spectrum of presentations and can be fatal. Any drug can induce allergic and hypersensitivity symptoms in the appropriate context and host. The…

Anaphylaxis

Definition Anaphylaxis arises when mast cells and possibly basophils secrete potent mediators that have effects on vasculature, smooth muscle, mucous glands, and nerves, thereby eliciting a systemic response. Although mast cells in any organ system may be involved, dictated in part by the distribution of the instigating stimulus, the principal targets are the cardiovascular, cutaneous, respiratory, and gastrointestinal systems, where mast cells are most abundant. Anaphylaxis…

Urticaria and Angioedema

Definition Acute and chronic urticaria, which involve the dermis, are caused by the excessive release of histamine from mast cells—sometimes acute and sometimes chronic, and sometimes with and sometimes without a trigger. Angioedema, which also involves subcutaneous tissue, can accompany histamine-driven urticaria or can be caused by excessive bradykinin, either as a result of hereditary angioedema or specific provoking agents. Histamine-Induced Acute and Chronic Urticaria Episodes…

Primary Immunodeficiency Diseases

Primary immune defects affect about 1 per 10,000 persons, but the prevalence rises to 1 per 400 to 1 per 5000 persons when selective immunoglobulin A (IgA) deficiency is included. , The prevalence has been increasing as the number of known defects has increased to about 450 different entities. Primary immune defects are now classified into nine categories ( Table 231-1 ). The functions of complement…

Approach to the Patient with Allergic or Immunologic Disease

Allergic diseases and disorders of the immune system affect multiple organ systems. This chapter addresses approaches to common allergic disorders and inborn errors of immunity. Specific disorders are discussed in detail in the chapters to follow. Allergic Disease Definition and Epidemiology Diseases characterized by hypersensitivity of the immune system and inappropriate reactions to common environmental, food, and drug substances are termed allergic diseases. In the sensitized…