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MD Consult: Books: Goldman: Cecil Medicine: Section XXII – Rheumatic Disease

Goldman: Cecil Medicine, 23rd ed.

Copyright © 2007 Saunders, An Imprint of Elsevier

Section XXII – Rheumatic Disease


William P. Arend   George V. Lawry

Diseases of the musculoskeletal system are common and may be both disabling and costly. This chapter provides an approach to the evaluation of patients with rheumatic diseases by outlining the components necessary for identifying the patient’s problems, formulating a diagnosis, and initiating treatment.

Musculoskeletal disorders may manifest as acute, subacute, or chronic problems. Pain and interference with daily activities are what bring the patient to a physician and determine the impact of the condition. A general medical approach to the patient with rheumatic complaints is paramount, with particular reliance on an accurate history and a thoughtful physical examination. Usually, only limited additional testing is required to diagnosis most musculoskeletal disorders, but in some instances assessment with a number of laboratory analyses, imaging studies, and other disciplines may be necessary.


Categories of Musculoskeletal Diseases

Musculoskeletal diseases can be practically classified into nine categories, defined by the predominately affected tissues ( Table 277-1 ). At each point in the evaluation (history, physical examination, and laboratory testing), it is important to ask what tissues are involved. Recognition of the pattern of predominant tissue involvement can direct attention toward the disease primarily associated with that tissue. Before consideration of clinical approaches to the evaluation of patients with musculoskeletal problems, it is useful to first review the anatomy and pathophysiology of the affected structures.

TABLE 277-1   — 

Category Prototypes Useful Tests Treatments
Synovitis Rheumatoid arthritis Rheumatoid factor, ESR DMARDs and biologic agents
  Autoimmune diseases Antinuclear antibody test Prednisone and immunosuppressive drugs
Enthesopathy Ankylosing spondylitis and spondyloarthropathies Sacroiliac radiographs NSAIDs, MTX, and biologic agents
Crystal-induced synovitis Gout Joint fluid crystal examination NSAIDs
  CPPD (pseudogout) Radiographic chondrocalcinosis NSAIDs
Joint space disease Septic arthritis Joint fluid culture Antibiotics
Cartilage degeneration Osteoarthritis Radiographs of affected area NSAIDs, analgesics, and physical therapy
Osteoarticular disease Osteonecrosis Radiographs, magnetic resonance imaging Core decompression or prosthetic joint replacement
Inflammatory myopathy Polymyositis Muscle enzymes, electromyography, muscle biopsy Corticosteroids and immunosuppressive
  Dermatomyositis   drugs
  Inclusion body myositis    
Local and regional conditions Tendonitis or bursitis Aspirate bursa if infection is Local injections
General conditions Polymyalgia rheumatica Elevated ESR Corticosteroids
  Fibromyalgia Normal ESR Aerobic exercise, stretches, and sleep medications

Biologic agents = anti-tumor necrosis factor (anti-TNF) drugs and others; CPPD = calcium pyrophosphate dehydrate disease; DMARDs = disease-modifying anti-rheumatic drugs; ESR = erythrocyte sedimentation rate; MTX = methotrexate; NSAIDs = nonsteroidal anti-inflammatory drugs.


The structures that may be involved in musculoskeletal diseases are shown in Figure 277-1A . Foremost is the joint cavity. The lining membrane, known as the synovium, consists of a thin layer of macrophages (type A cells) and fibroblasts (type B cells) with a sublining of rich, vascular, loose connective tissue. Hyaline cartilage overlies the bony end plates and provides a cushion to joint motion. The cartilage has high water content and obtains its nutrition solely from the synovial fluid, which is derived from the synovium primarily as an ultrafiltrate of plasma. The synovium also secretes specialized molecules into the synovial fluid, such as hyaluronic acid. An intact bony end plate is required to support the cartilage. The joint capsule and ligaments provide further support and blend with the periosteum. Periarticular anatomy is equally important and includes the tendons, bursae, and muscles associated with each joint.

FIGURE 277-1  Structures involved in musculoskeletal diseases. A, Anatomic structures of the musculoskeletal system. B, Location of rheumatic disease processes.


The etiology of musculoskeletal problems is usually inflammatory, metabolic, degenerative, tumor, or some combination thereof. The disorders associated with musculoskeletal tissues are summarized in Table 277-1 and Figure 277-1B . Synovial inflammatory disorders, such as rheumatoid arthritis (RA), begin in the synovium and secondarily damage the cartilage, joint capsule, and bone. Inflammation at entheses, the insertion sites of tendons or ligaments on bone, is characteristic of the spondyloarthropathies, such as ankylosing spondylitis. Crystal deposition disorders, such as gout or pseudogout, may also cause articular inflammation. Infections primarily involve the joint cavity (septic arthritis) or bone (osteomyelitis). The noninflammatory, degenerative disease osteoarthritis (OA) begins in the cartilage and leads to cartilage loss, subchondral new bone formation, and marginal bony overgrowth. Cartilage loss may also occur secondarily to synovial inflammation or trauma. Osteonecrosis of bone may be associated with secondary cartilage damage after collapse of the bony end plate. Inflammatory diseases of the muscle usually manifest with painless proximal weakness. Periarticular inflammation may involve tendons or bursae, and these structures are common causes of pain and stiffness, often misinterpreted as arising from the joint itself. Lastly, the common clinical problem of fibromyalgia is characterized by soft tissue and joint pain with local tenderness in specific points but without objective evidence of inflammation or swelling.




An appreciation of the age, gender, and personal history of the patient is helpful, including marital status, occupation, and psychosocial factors.


The age of the patient is the first step in considering a differential diagnosis. For example, arthritis is a major manifestation of hemophilia with onset during childhood. The term juvenile RA refers to three different forms of arthritis with onset before the age of 16 years. In young adults, inflammatory and septic arthritic conditions may be seen, but OA is exceptional. The onset of RA is often in the middle years, whereas the elderly are more prone to OA. Arthritis in the elderly is often assumed to be degenerative, when in fact the patient may have an inflammatory process such as polymyalgia rheumatica, RA, or systemic lupus erythematosus (SLE).


RA and other autoimmune diseases are more common in women, whereas ankylosing spondylitis and the other spondyloarthropathies associated with the human leukocyte antigen HLA-B27 are more common in men. Gouty arthritis is more common in men and rarely attacks women before menopause.

Occupation and Recreation

Occupation and recreational activities are also important because of associated physical and psychological stresses. The clinician should inquire about the patient’s job to determine how demanding it is. Occupational factors such as repetitive joint trauma may contribute to the development of OA in susceptible individuals. Musculoskeletal symptoms may also be associated with jogging or with trauma from sports activities.

Family History

It is important to obtain a complete family history, because autoimmune diseases and gout occur with an increased incidence in families.

Onset and Evolution of Symptoms

Knowledge of the pattern of onset, location, and evolution of musculoskeletal symptoms is essential for accurate diagnosis. The development of symptoms over hours to days is characteristic of acute arthritis and usually represents an inflammatory or traumatic process. The persistence of symptoms for more than 6 weeks is considered chronic arthritis, whereas an intermediate duration of days to weeks is referred to as subacute arthritis. Musculoskeletal pain can be further characterized using the mnemonic “OPQRST” where O = onset, P = precipitating (and ameliorating) factors, Q = quality, R = radiation, S = severity, and T = timing. The most common symptom of musculoskeletal disease is pain; a diagnostic approach to the evaluation of patients presenting with musculoskeletal pain is presented in Figure 277-2 .

FIGURE 277-2  Diagnostic approach to musculoskeletal pain. CRP = C-reactive protein; ESR = erythrocyte sedimentation rate; MRI = magnetic resonance imaging; OA = osteoarthritis; PE = physical examination.

Pattern of Joint Involvement

The distribution of joint involvement is one of the most essential aspects of diagnosis of musculoskeletal diseases. Monoarthritis describes symptoms in a single joint; oligoarthritis (or pauciarthritis), symptoms in two to four joints; and polyarthritis, involvement of five or more joints. Arthritis in an extremity is called peripheral joint disease, whereas spinal involvement is termed axial disease. It is important to elicit a history of symmetrical versus asymmetrical peripheral joint disease. The predominant involvement of the small joints of the hands and feet or of large joints such as the shoulder, hip, and knee also has diagnostic importance.

A critical feature in clinical diagnosis is the distinction between arthralgia (subjective joint pain) and arthritis (objective joint swelling, deformity, or impaired function). Objective findings on physical examination must be found for a diagnosis of “arthritis” to be made.

Inflammatory versus Noninflammatory Conditions

An important initial step in the evaluation of musculoskeletal symptoms is the differentiation of inflammatory versus noninflammatory disease. A history of warmth and erythema over a joint suggests inflammatory disease. Morning stiffness lasting longer than 60 minutes, a “gel” phenomenon (stiffness after rest that is more than transient), and improvement in pain and stiffness with activity all suggest the presence of inflammatory disease. In contrast, minimal morning stiffness and worsening pain with activity suggest noninflammatory joint disease.

Extra-articular and Systemic Features

A careful history may reveal important systemic and extra-articular manifestations, including fever, fatigue, weakness, dry eyes, ocular inflammation, pulmonary symptoms, or Raynaud’s phenomenon. The finding of musculoskeletal complaints in the setting of systemic symptoms and multiorgan involvement strongly suggests the possibility of a diffuse connective tissue disease such as SLE.

Functional Disability Indices

A number of self-report questionnaires such as the Stanford Health Assessment Questionnaire, Functional Disability Index, and Arthritis Impact Measurement Scales, or modifications of these, have been developed for ongoing evaluation of patients with arthritis. These instruments document patient-reported functional status with results comparable to those of traditional physician-reported measures of joint disease activity, such as tender joint count, or to a radiographic joint erosion score and erythrocyte sedimentation rate.

Physical Examination

Essential Concepts

The physical examination includes a record of the patient’s gait and posture as well as examination of the spine and skeletal muscles. The joints shown in Figure 277-3 should be examined systematically, region by region, with a side-to side comparison to determine whether any are inflamed or damaged. The pattern of joint involvement, whether symmetrical, axial, or peripheral, should be recorded using the diagram. The abnormalities detected in each joint should be recorded as deformity, tenderness, erythema, swelling, and altered range of motion (ROM) to allow comparison between the same or different examiners over time.

FIGURE 277-3  A pictorial method for recording joint disease activity or destruction. The sketch can be used on a printed form or rubber stamp to chart which joints are active or deformed at the time of each assessment.  (Courtesy of Dr. Hugh A. Smythe, Toronto.)

A screening musculoskeletal examination (a rapid assessment of structure and function) and a general musculoskeletal examination (a more comprehensive assessment of joint swelling and arthritis) are demonstrated in the online material accompanying this text. The following sections are drawn from this video material.

Examination Components

There are four essential steps in musculoskeletal physical examination.


Inspect for asymmetry, deformity, erythema, and swelling.


Palpate for tenderness, warmth, synovial thickening and effusion, bony hypertrophy, and crepitus.

Range of Motion

Take the joint through passive or active ROM (or a combination of both).

Special Testing

Perform an assessment of supporting structures (such as ligaments and tendons) or for conditions particular to a single region (such as Tinel’s sign at the wrist for detection of carpal tunnel syndrome).

Objective Joint Findings

A careful examination is critical in distinguishing articular from periarticular conditions.

Joint tenderness alone is insufficient for diagnosis and must be correlated with the finding of an objective, visible, or palpable abnormality for a diagnosis of arthritis to be made. Joint redness (erythema) depends on the acuteness and severity of the underlying inflammation, and its presence may suggest the possibility of infection or crystalline arthritis. Joint warmth also depends on the acuteness of the underlying inflammation. Joint swelling is a definitive sign of arthritis and may be caused by either a joint effusion (excess synovial fluid) or an inflamed and swollen synovial membrane (synovitis). Bony hypertrophy around a joint (osteophytic swelling) is characteristic of osteoarthritis. Crepitus refers to a continuous grating sensation that is felt by the examiner’s hand during joint motion. Fine or velvety crepitus may denote chronic proliferative synovitis, whereas coarse crepitus may indicate either roughening of the cartilage surface or complete loss of hyaline cartilage. Joint damage and deformity are usually signs of prior arthritis or injury (ligamentous laxity, joint subluxation, tendon rupture, or contracture).

Range of Motion

Both active and passive ROM are important in assessing joint function. Active ROM is patient-initiated movement of the joint; it tests integrated function and requires intact innervation and muscle and tendon function, as well as joint mobility. Passive ROM is examiner-initiated movement of a joint; it tests only joint mobility. The combined use of passive and active ROM minimizes the need for patient instruction and maximizes the speed and efficiency of the examination. Whenever joint motion is anticipated to be painful, it is best to first observe active ROM, to appreciate the degree of pain and dysfunction, before gently attempting passive ROM.

Extra-articular Findings

Because many rheumatic diseases are multisystem disorders, physical examination may document the presence of important extra-articular features. In RA, for example, these include subcutaneous nodules, digital vasculitis, and other systemic features as described in Chapter 285 .


Clinical evaluation enables the establishment of which anatomic structures are inflamed, which are damaged, and how function is impaired. Nine types of rheumatic involvement can be identified as a framework for various diagnostic possibilities or hypotheses to be considered (see Fig. 277-1B ). The nine categories presented in the following paragraphs are listed in Table 277-1 along with typical diseases, examples of useful diagnostic tests, and treatments. Table 277-1 and the descriptions in this section provide the basis for more detailed information contained in the following chapters.


Inflammation of the synovial membrane lining of the joint is typical of inflammatory polyarthritides such as RA and other autoimmune diseases. Persistent synovitis in RA may lead to irreversible joint damage.


The enthesis is the anatomic transition zone where tendons, ligaments, and joint capsules attach to bone. Inflammation in this region is the hallmark of the family of spondyloarthropathies, of which ankylosing spondylitis is the prototype. Other members of this group include reactive arthritis associated with enteric or urethral infection, the arthropathy associated with inflammatory bowel disease, and psoriatic arthritis. In ankylosing spondylitis, the sacroiliac joints and apophyseal joints of the spine show characteristic inflammation with a tendency to bony ankylosis (axial predominance), whereas in psoriatic arthritis there is frequently enthesitis with an oligopolyarthritis (peripheral predominance).

Crystal-Induced Synovitis

Crystals of monosodium urate (gout), calcium pyrophosphate (pseudogout), or hydroxyapatite are capable of inducing an acute inflammatory reaction in both synovial fluid and synovium. Acute crystalline arthritis usually affects only one or at most a few joints at a time. Joint aspiration and synovial fluid analysis for crystals using polarized light microscopy establish the diagnosis. Calcium pyrophosphate deposition disease (CPPD) is often associated with the radiologic appearance of chondrocalcinosis of hyaline cartilage.

Joint Space Disease

Septic arthritis may develop from hematogenous spread of microorganisms into the joint space, through local extension from adjacent soft tissues or by joint penetration. Joint infections are usually associated with intense pain even at rest, and the diagnosis is confirmed by joint aspiration with Gram stain and culture of the synovial fluid. A joint prosthesis increases susceptibility to infection in that joint. Blood in the joint space, known as hemarthrosis, may result from microfractures, coagulopathy, or tumor.

Cartilage Degeneration

OA is defined as loss of articular cartilage with a bony response leading to the formation of osteophytes. Primary OA is thought to be caused by biochemical abnormalities in the cartilage that predispose to microfissures in the surface and subsequent degeneration of the cartilage. Secondary OA may develop as a consequence of inflammatory conditions such as RA, ankylosing spondylitis, septic arthritis, and CPPD. Previous trauma and joint hypermobility are other mechanical factors that may predispose to OA.

Osteoarticular Disease

Osteopenia/osteoporosis may complicate many rheumatic conditions and are dealt with in Chapter 264 . Osteonecrosis, which results from collapse of the bony end plate due to vascular insufficiency, causes secondary crushing and fragmentation of the overlying articular cartilage. Osteonecrosis may be idiopathic or associated with systemic conditions such as sickle cell disease or liver disease; it may occur after treatment with high-dose corticosteroids. Inflammation of the periosteum, known as periostitis, may be associated with hypertrophic pulmonary osteoarthropathy and clubbing. This syndrome may be a clue to underlying lung cancer.

Inflammatory Myopathy

Inflammation and (usually painless) weakness of the proximal skeletal muscles are characteristic of inflammatory myopathies: polymyositis, dermatomyositis, and inclusion body myositis. Elevated creatine kinase levels, electromyographic abnormalities, and characteristic histologic abnormalities on muscle biopsy are present in inflammatory myopathies.

Local and Regional Conditions

Nonarticular disorders such as tendonitis, bursitis, and neck and low-back strains are very common regional problems. They usually respond to analgesics or nonsteroidal anti-inflammatory drugs, physical therapy, protective splints, or injection of corticosteroids.

General Conditions

These nonarticular or extra-articular disorders are not usually associated with arthritis. This group includes polymyalgia rheumatica, complex regional pain syndrome/reflex sympathetic dystrophy, and fibromyalgia. Polymyalgia rheumatica usually affects Caucasians older than 50 years of age and causes proximal muscle pain in the neck, shoulders, and hips, with significant morning stiffness and a high erythrocyte sedimentation rate. It is sometimes associated with giant cell (temporal) arteritis. Fibromyalgia usually manifests in individuals younger than 50 years of age; is associated with widespread arthralgia and myalgia (deceptively inflammatory-sounding), morning stiffness, significant fatigue, and nonrestorative sleep. It is accompanied by the presence of tender points in characteristic locations, as described in Chapter 295 .


Effective treatment must be based on accurate diagnosis (see Table 277-1 ).

If a formal diagnosis is not apparent, generation of a prioritized problem list can be very helpful in suggesting a differential diagnosis and creating an initial management strategy. The acuteness and severity of presentation dictate whether immediate intervention is required or further observation is more appropriate. For example, an acute monarthritis (possible septic or crystalline arthritis) requires immediate attention, whereas a widespread smoldering polyarthritis may not. However, a patient with polyarthritis who is systemically ill requires prompt investigation to exclude a diffuse autoimmune disease, underlying infection, or hidden malignancy.

Arthrocentesis is helpful diagnostically, and aspiration of synovial fluid is also helpful therapeutically in relieving symptoms and permitting injection of corticosteroids when appropriate. Photographs showing important landmarks for needle aspiration and injection of common joints are present in the online version of this text.

Regardless of the diagnosis, educating the patient and family is crucial to successful management of any chronic musculoskeletal problem. Informed patients are more likely to comply with treatment and develop more realistic expectations of outcome. The goal of management for patients with musculoskeletal diseases is to control pain, prevent joint destruction, and maintain independence. For this reason, treatment should be individualized and based on early, accurate identification of symptoms and signs, a firm diagnosis, prompt administration of appropriate therapy, and vigilant monitoring of response.

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