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Joint disorders
Disorders of joints are common problems. They may be acute, as in gout or rheumatic fever, or chronic, as in osteoarthritis. Some acute disorders go on to become chronic, e.g. rheumatoid arthritis. The first part of this section deals with general causes of arthropathy and the second part deals with specific joint disorders.
Causes
Congenital
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Achondroplasia (dwarfism)
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Ehlers–Danlos syndrome
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Marfan’s syndrome
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Osteogenesis imperfecta
Acquired
Infective
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Septic arthritis
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Viral
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TB • (very common in the developing world and on the increase in developed countries)
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Rheumatic fever • (very common in developing countries)
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Endocarditis
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Brucellosis
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Typhoid • (very common in developing countries)
Inflammatory
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Rheumatoid arthritis
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Polymyalgia rheumatica
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Psoriatic arthritis
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Henoch–Schönlein disease
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Reactive arthritis (Reiter’s disease)
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Ankylosing spondylitis
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Connective tissue disease
Degenerative
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Osteoarthritis ( Fig. 38 )
Enteropathic
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Acute gastrointestinal infections (e.g. hepatitis B/C)
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Inflammatory bowel disease
Endocrine
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Acromegaly
Metabolic
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Gout
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Pseudogout
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Haemochromatosis
Neuropathic
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Charcot’s joints
Haematological
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Haemophilia
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Leukaemia
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Sickle cell disease
Drugs
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Anticoagulants
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Steroids
Neoplastic
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Hypertrophic pulmonary osteoarthropathy
Other
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Avascular necrosis of bone
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Sarcoidosis
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Behçet’s disease • (more common in certain Mediterranean countries)
History
Congenital
Premature osteoarthritis may occur in achondroplasia. In Ehlers–Danlos syndrome, a genetic disorder of connective tissue, patients display hypermobile joints and hyperextensible skin. They may present with joint subluxation, dislocation and swelling due to effusions. In Marfan’s syndrome, generalised joint laxity occurs with patients presenting with joint pain and swelling due to effusions. In osteogenesis imperfecta, bony fracture is common.
Acquired
Infective
Septic arthritis usually presents as a monoarthritis with a red, swollen, painful, immobile joint. Spread has usually occurred by the haematogenous route but may occur from adjacent osteomyelitis. Organisms responsible include Staphylococcus aureus streptococci , gonococcus, Brucella and Salmonella spp. With TB, the patient usually presents subacutely with swelling and stiffness of the joint. It is not as erythematous or warm as with acute septic arthritis. Viral arthritis may occur with rubella, mumps, hepatitis and certain enteroviruses. Rheumatic fever usually follows a streptococcal infection, e.g. scarlet fever or tonsillitis. There is a history of migratory polyarthritis, together with erythematous skin lesions and subcutaneous nodules.
Inflammatory
Rheumatoid arthritis often presents in multiple joints involvement, with swollen, painful, stiff hands and feet. Eventually characteristic hand deformities with swelling of the metacarpophalangeal joints, swan-neck and boutonnière deformities and ulnar deviation occur. The patient may complain of extra-articular manifestations, i.e. rheumatoid nodules, pulmonary disease and eye changes. Psoriatic arthritis can occur in patients with psoriasis. Reactive/Reiter’s disease may present when a history of gastrointestinal or genitourinary infection is present with associated urethritis and conjunctivitis. Ankylosing spondylitis most commonly affects young males and initially presents with morning stiffness in the lower spine. The sacroiliac joints are invariably involved. Arthritis may occur in SLE. Other manifestations may be present, e.g. cutaneous, pulmonary or renal. Polymyalgia rheumatica presents with morning stiffness with a mild polyarthritis. Henoch–Schönlein purpura presents with a purpuric rash, often over the buttocks and extensor surfaces. There may be associated nephritis and abdominal pain. Pain, swelling and stiffness in the joints, usually the ankles and knees, are transient.
Degenerative
Osteoarthritis usually occurs after the age of 50, unless it is secondary to previous joint pathology or injury. The patient complains of pain on movement, worse at the end of the day, together with stiffness and instability of joints. Bony swelling may be present.
Enteropathic
Check for a history of Crohn’s disease or ulcerative colitis. There may also be a history of gastric bypass surgery. The spine or the peripheral joints may be affected.
Endocrine
Acromegaly will lead to arthralgia. The patient will usually complain of other symptoms, namely, enlarged hands and feet (increase in shoe size) and deepening of the voice.
Metabolic
Gout usually presents with severe pain, redness and swelling in the first metatarsophalangeal joint; however, any joint may be affected. There may be a history of polycythaemia, leukaemia or medication with cytotoxic or immunosuppressive drugs.
Neuropathic
The patient usually complains of painless, swollen joints, which are unstable. There may be a history of diabetes, tabes dorsalis (syphilis), syringomyelia or leprosy.
Haematological
Bleeding into joints (haemarthrosis) occurs in haemophilia. A family history will be apparent. Eventually severe arthropathy occurs. Pain in bones and joints may occur in both childhood and adult leukaemia along with fever, fatigue and recurrent infections. In sickle cell disease, painful crises may occur in bones and joints. Avascular necrosis of bone may occur.
Drugs
Anticoagulants may cause bleeds into joints, whilst steroids may lead to septic arthritis or avascular necrosis of bone, with subsequent secondary degenerative disease.
Neoplastic
Rarely, a patient will present with direct infiltration of a joint with malignant disease. However, hypertrophic pulmonary osteoarthropathy is more common, occurring usually in association with bronchial/ovarian carcinoma, but it may occur in association with congenital heart disease.
Other
Avascular necrosis of bone may lead to secondary arthritis. The most common sites are the head of the femur, proximal tibia, proximal scaphoid, talus and lunate. Check for a history of steroid use. Arthralgia may occur in sarcoidosis presenting with fever, malaise, lymphadenopathy and erythema nodosum. Behçet’s disease may present with arthritis but usually there are eye signs, mouth ulcers and genital ulcers.
Examination
Congenital
In Ehlers–Danlos syndrome, there will be hypermobile joints and hyperextensible skin. There may be evidence of dislocation or subluxation of joints. In Marfan’s syndrome, the patient will be tall with long extremities, long fingers (arachnodactyly), high-arched palate, lens dislocation and aortic incompetence. Diagnosis of osteogenesis imperfecta will present as stunted growth due to repeated fractures with deformities. The patient has blue sclerae and often hypotonia.
Acquired
Infective
With infective arthritis there is usually a red, painful, swollen, tender joint with limited movement. The patient will be pyrexial and a single joint is usually involved. With viral infections, there may be signs of childhood illness, e.g. mumps (swollen salivary glands), rubella (rash), hepatitis (jaundice). With rheumatic fever, there will be murmurs, migratory polyarthritis, subcutaneous nodules, erythema marginatum and occasionally chorea (Sydenham’s).
Inflammatory
With rheumatoid arthritis, there will be swelling of the metacarpophalangeal, PIP and wrist joints. Swan-neck and boutonnière deformities will be apparent, as will ulnar deviation. There may be subluxation at the wrist. Tendon ruptures may occur. Large joint involvement is common and atlantoaxial subluxation with myelopathy may develop. General signs include anaemia, nodulosis and eye signs. With psoriatic arthritis psoriasis of the skin is usually present. With reactive/Reiter’s disease, there may be urethritis, conjunctivitis, keratoderma blenorrhagica, circinate balanitis, plantar fasciitis and Achilles tendonitis. With ankylosing spondylitis, there may be minimal signs initially, the first sign usually being a reduced range of movement of the lumbar spine, but eventually there will be involvement of the sacroiliac joints, together with a loss of the lumbar lordosis and a fixed kyphotic spine. SLE may present with malaise, arthralgia, myalgia, a butterfly rash on the face, Raynaud’s phenomenon, splenomegaly, pleurisy, pleural effusion, pericarditis. Polymyalgia rheumatica is associated with tender muscles and mild polyarthritis, and there may be associated temporal arteritis.
Degenerative
Osteoarthritis usually involves the distal interphalangeal joints (Heberden’s nodes), the metacarpophalangeal joint of the thumb, the first metatarsophalangeal joint, the cervical spine, the lumbar spine, the hips and knees. There will be joint tenderness and limitation of movement.
Enteropathic
There is normally spondyloarthritis with sacroiliitis. Large joint monoarthropathy is common, although many peripheral joints may be involved.
Endocrine
With acromegaly, there will be large hands and feet, a macroglossia, prognathism, arthralgia, kyphosis, deep voice and heart failure. There may be signs of the pituitary tumour (i.e. bilateral hemianopia) due to local pressure on the optic chiasma.
Metabolic
There is an acutely painful, red, swollen joint with gout. The first metatarsophalangeal joint is most often involved but any joint may be affected. There may be evidence of gouty tophi, e.g. pinna, tendons, joints. With haemochromatosis, in addition to arthropathy, there may be evidence of hepatomegaly, cirrhosis, diabetes, cardiomyopathy and skin pigmentation.
Neuropathic
Deformed, painless joints with subluxation may occur. There is usually limited warmth or tenderness in relation to the joint. Abnormal movement may occur. If the condition is due to syphilis (tabes dorsalis), there may be Argyll Robertson pupils.
Haematological
With haemophiliacs, the patient will present with an acute, painful, immobile joint following a bleed. Eventually, there will be deformed joints. Joints may be involved in leukaemia and acute sickle cell crises.
Drugs
Steroids may cause avascular necrosis, especially of the hips. There will be pain and limitation of movement. Osteoarthritis develops eventually. Patients on anticoagulants may have acute haemarthroses.
Neoplastic
Hypertrophic pulmonary osteoarthropathy usually occurs in association with bronchial/ovarian carcinoma. The ends of long bones are affected by symmetrical but irregular widespread thickening. Clubbing usually occurs. Pain from local tumours may progress to a pathological fracture.
Other
With avascular necrosis of bone, there is usually severe pain, tenderness and limitation of movement leading to osteoarthritis. With sarcoidosis, there is usually fever, lymphadenopathy, hepatosplenomegaly, erythema nodosum, eye signs, cardiac signs and CNS involvement.
General investigations
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FBC, ESR
Hb ↓ anaemia of chronic disease, e.g. rheumatoid arthritis, SLE. WCC ↑ infective causes, leukaemia. ESR ↑ chronic infection, rheumatoid arthritis, ankylosing spondylitis, rheumatic fever.
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CRP
↑ infective and inflammatory causes.
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U&Es
Renal involvement, e.g. SLE.
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LFTs
Hepatic involvement, e.g. haemochromatosis.
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Serum uric acid
Gout.
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Rheumatoid factor, anti-CCP antibodies
Rheumatoid arthritis.
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PSA
Prostatic carcinoma.
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Joint X-ray
Osteoarthritis – loss of joint space, subchondral sclerosis and cyst, osteophytes. Rheumatoid arthritis – soft-tissue thickening, juxta-articular osteopenia, loss of joint space, erosion of bone, subluxations. Avascular necrosis – avascular bone is more dense than adjacent bone. Gout – soft-tissue swelling initially, then ‘punched-out’ lesions in juxta-articular bone. Ankylosing spondylitis – syndesmophytes, bamboo spine, obliteration of sacroiliac joints.
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CXR
Bronchial carcinoma.
Specific investigations
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Blood culture
Septic arthritis – Staphylococcus aureus, Brucella, Salmonella, Streptococci .
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Antibody screen
ANA positive. Anti-double-stranded DNA ↑ SLE.
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Brucella serology
Brucellosis.
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Viral titres
Viral infections.
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Hepatitis screen
Hepatitis B-associated arthralgia.
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Sickling test
Sickle cell disease.
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Coagulation screen
Anticoagulant therapy. Haemophilia.
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Mantoux test/ELISpot assay
TB.
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Skeletal survey
Tumours are usually visible only when more than 50% of bone mineral is lost. Acromegaly – pituitary fossa, hand and skull changes.
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Bone scan
Metastatic disease. Primary bone tumours. Paget’s disease. Inflammatory bone lesions. Osteoarthritis. Rheumatoid arthritis. Bone fractures.
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MRI
Soft-tissue injuries. Meniscal injuries. Ligamentous injuries. Early rheumatoid arthritis.
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Joint aspirate
Microscopy and culture and sensitivity in septic arthritis. Crystals in gout.
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Synovial biopsy
Arthritis in rare cases.
Individual joints
The following section covers individual joints. The conditions described under the individual joints (below) will refer to those conditions that normally affect, or cause pain in, the region of the particular joint.
Shoulder
Causes
Congenital
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Klippel–Feil syndrome
Acquired
Traumatic
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Dislocation
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Fracture of the neck of the humerus
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Fracture of the clavicle
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Fracture of the scapula
Degenerative
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Supraspinatus tendinosis
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Impingement syndromes
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Rotator cuff tears
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Frozen shoulder (adhesive capsulitis)
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Osteoarthritis
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Acromioclavicular
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Glenohumeral
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Inflammatory
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Rheumatoid arthritis
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Crystal disease (gout, pseudogout)
Infective
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Septic arthritis
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TB arthritis
Neoplastic
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Metastases in the upper end of the humerus/ribs/neck
Referred pain
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Cervical spondylosis
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Diaphragmatic irritation
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Pancoast’s tumour
Neurological
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Winged scapula
History
Congenital
In Klippel–Feil syndrome, the neck is short and there are anomalies of the cervical vertebrae; the scapula is placed superiorly.
Acquired
Traumatic
With dislocation of the shoulder, there is usually a history of a fall on the outstretched hand. Recurrent dislocation may occur. The patient presents in pain supporting the arm, which is abducted. Anterior dislocation is the most common, but posterior dislocation is often missed and can occur after trauma such as fits or electric shocks. Clavicular fracture is usually caused by a fall on the outstretched hand or point of the shoulder. Scapular fractures are usually high-energy injuries often due to RTAs.
Degenerative
Supraspinatus tendinosis results from degeneration, inflammation or calcification of the tendon. There may be sudden pain or there may be just a painful arc at the initiation of movement. With impingement syndromes, the rotator cuff becomes compressed under the acromion or acromioclavicular joint, resulting in pain on abducting the arm. Rotator cuff tears often occur in older patients and probably relate to degeneration of the cuff. The patient is unable to initiate abduction of the arm but passive movement is normal. Frozen shoulder (adhesive capsulitis) usually affects the middle-aged and there may be a history of minor injury. There is pain and limitation of both active and passive movement of the shoulder. It may occur in the elderly following immobilisation of the arm, e.g. following a Colles’ fracture or stroke. It is more common in diabetics. Osteoarthritis of the acromioclavicular joint presents as pain associated with overhead movement and a high painful arc ( >140°). Osteoarthritis of the glenohumeral joint may be idiopathic, or follow avascular necrosis or radionecrosis following radiotherapy for carcinoma of the breast. The patient complains of pain on shoulder movement and night pain.
Inflammatory
Rheumatoid arthritis is more common than osteoarthritis in the shoulder joint. There is usually a history of rheumatoid arthritis elsewhere.
Infective
The patient presents with a painful, red, swollen joint with limited movement. TB of the shoulder is extremely rare in the UK. There are systemic symptoms of malaise and fever and there is usually wasting of the muscle around the shoulder joint.
Neoplastic
Secondary deposits may occur in the upper end of the humerus, giving rise to pain. Pathological fractures may occur. Check for a history of carcinoma of the bronchus, breast, thyroid, prostate or kidney.
Referred pain
This is an extremely common cause of shoulder pain. Cervical spondylosis often results in referred pain to the upper part of the shoulder. Check for a history of neck pain with limitation of movement of the neck. Irritation of the diaphragm may refer pain to the dermatome C4 at the shoulder tip. This may be due to peritonitis below the diaphragm or pleurisy if above. A history of chest problems should be sought if Pancoast’s tumour is suspected, especially if Horner’s syndrome is present.
Neurological
Winged scapula may cause difficulty with shoulder movements. Check for recent surgery to the neck or axilla, e.g. axillary clearance in breast carcinoma, which may damage the long thoracic nerve. Carrying heavy loads on the shoulders over a prolonged period may also be responsible.
Examination
Congenital
Klippel–Feil syndrome. The patient will present with a short neck and a highly placed scapula.
Acquired
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