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 causes of arthropathy in general; the second part deals with disorders of specific joints. The list of causes of arthropathies is legion and only the more common ones will be mentioned. 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. They may also present with the bleeding complications of Ehlers–Danlos syndrome. 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. 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. Patients on steroids or who are immunosuppressed are particularly at risk from infective 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 migratory polyarthritis, together with carditis, erythematous skin lesions and subcutaneous nodules. Rheumatoid arthritis most often presents 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. Large joints are also involved. The patient may complain of extra-articular manifestations, i.e. rheumatoid nodules, pulmonary disease and eye changes. Psoriatic arthropathy usually follows several years after the skin lesions. Reactive/Reiter’s disease may present with a mono- or oligoarthritis. 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. Eventually, bony ankylosis occurs with a fixed kyphotic spine. The patient may also complain of symptoms in peripheral large joints. Arthritis may occur in SLE. Other manifestations may be present, e.g. cutaneous, pulmonary or renal. Polymyalgia rheumatica occurs in elderly Caucasian women. There is aching and 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, is transient. Osteoarthritis usually occurs after the age of 50 years, unless it is secondary to previous joint pathology. 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. 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. 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. 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. With haemochromatosis, the diagnosis will usually be apparent when the patient presents. There will be cirrhosis, diabetes, cardiomyopathy and skin pigmentation. The patient usually complains of swollen joints, which are unstable but painless. There may be a history of diabetes, tabes dorsalis (syphilis), syringomyelia or leprosy. Bleeding into joints (haemarthrosis) occurs in haemophilia. The history will be apparent. Eventually crippling arthropathy occurs. Pain in bones and joints may occur in both childhood and adult leukaemia. In sickle cell disease, painful crises may occur in bones and joints. Avascular necrosis of bone may occur. Anticoagulants may cause bleeds into joints. Steroids may lead to septic arthritis or avascular necrosis of bone, with subsequent secondary degenerative disease. 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 carcinoma, but it may occur in association with congenital heart disease. 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. Avascular necrosis of the scaphoid will follow scaphoid fracture, and avascular necrosis of the head of the femur may follow fractures of the neck of the femur or slipped upper femoral epiphysis. Arthralgia may occur in sarcoidosis. The patient presents with fever, malaise and lymphadenopathy and erythema nodosum. Behçet’s disease may present with arthritis. Usually there are eye signs, mouth ulcers and genital ulcers. CNS involvement with meningoencephalitis may occur. Achondroplasia is obvious. 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 usually be obvious. There is stunted growth due to repeated fractures with deformities. The patient has blue sclerae and often hypotonia. With infective arthritis there is usually a red, painful, swollen, tender joint, which has virtually no active or passive movement. The patient will be pyrexial. Usually, a single joint is 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 carditis with changing murmurs, migratory polyarthritis, subcutaneous nodules, erythema marginatum and occasionally chorea (Sydenham’s). 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 arthropathy 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. Reduced respiratory excursion may occur. 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, mild polyarthritis and there may be associated temporal arteritis. 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. There is normally spondyloarthritis with sacroiliitis. Large joint monoarthropathy is common, although many peripheral joints may be involved. 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. There is an acutely painful, red, swollen joint with gout. The first metatarsophalangeal joint is most often involved (podagra) 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. Deformed, painless joints with subluxation may occur. There is usually no warmth or tenderness in relation to the joint. Abnormal movement may occur. Neurological examination may reveal dorsal column signs. If the condition is due to syphilis (tabes dorsalis), there may be Argyll Robertson pupils. 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. 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. Hypertrophic pulmonary osteoarthropathy usually occurs in association with bronchial carcinoma. The ends of long bones are affected by symmetrical but irregular widespread thickening. Clubbing usually occurs. Pain from local tumours is constant and may progress to a pathological fracture. With avascular necrosis of bone, there is usually severe pain, tenderness and limitation of movement. Ultimately osteoarthritis develops. With sarcoidosis, there is usually fever, lymphadenopathy, hepatosplenomegaly, erythema nodosum, eye signs, cardiac signs and CNS involvement. With Behçet’s disease, there will be arthritis, keratitis, uveitis, mouth ulcers, genital ulcers and occasionally CNS involvement. ■ FBC, ESR ■ CRP ■ U&Es ■ LFTs ■ Rheumatoid factor, anti-CCP antibodies ■ Sickling test ■ Joint X-ray ■ Antistreptolysin O titre ■ Blood culture ■ Antibody screen ■ Brucella serology ■ Viral titres ■ Hepatitis screen ■ Sickling test ■ Coagulation screen ■ Mantoux test/ELISpot assay ■ Skeletal survey ■ Bone scan ■ MRI ■ Joint aspirate The following section covers individual joints. It must be appreciated that the conditions covered in joint disorders (above) can involve almost any joint; however, 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. In Klippel–Feil syndrome, the neck is short and there are anomalies of the cervical vertebrae; the scapula is placed superiorly. 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. With dislocation of the acromioclavicular joint, there is usually a history of a fall on the shoulder (common in rugby players). Fracture of the surgical neck of the humerus occurs with a fall on the shoulder. The patient presents with pain, deformity and inability to move the shoulder. 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. Rheumatoid arthritis is more common than osteoarthritis in the shoulder joint. There is usually a history of rheumatoid arthritis elsewhere. A history of gout or pseudogout may be evident. 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. 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.
Joint Disorders
Causes
History
Congenital
Acquired
Infective
Inflammatory
Degenerative
Enteropathic
Endocrine
Metabolic
Neuropathic
Haematological
Drugs
Neoplastic
Other
Examination
Congenital
Acquired
Infective
Inflammatory
Degenerative
Enteropathic
Endocrine
Metabolic
Neuropathic
Haematological
Drugs
Neoplastic
Other
General Investigations
Hb ↓ anaemia of chronic disease, e.g. rheumatoid arthritis, SLE. WCC ↑ infective causes, leukaemia. ESR ↑ chronic infection, rheumatoid arthritis, ankylosing spondylitis, rheumatic fever.
↑ infective and inflammatory causes.
Renal involvement, e.g. SLE.
Hepatic involvement, e.g. haemochromatosis.
Rheumatoid arthritis.
Sickle cell disease.
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.
Specific Investigations
Rheumatic fever.
Septic arthritis – Staphylococcus aureus, Brucella, Salmonella, streptococci.
ANA positive. Anti-double-stranded DNA ↑ SLE.
Brucellosis.
Viral infections.
Hepatitis B-associated arthralgia.
Sickle cell disease.
Anticoagulant therapy. Haemophilia.
TB.
Tumours are usually visible only when more than 50% of bone mineral is lost. Acromegaly – pituitary fossa changes, hand and skull changes.
Metastatic disease. Primary bone tumours. Paget’s disease. Inflammatory bone lesions. Osteoarthritis. Rheumatoid arthritis. Bone fractures.
Soft-tissue injuries. Meniscal injuries. Ligamentous injuries. Early rheumatoid arthritis.
Microscopy and culture and sensitivity. Crystals in gout.
Individual Joints
History
Congenital
Acquired
Traumatic
Degenerative
Inflammatory
Infective
Neoplastic
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