Ankylosing Spondylitis And Scleroderma Flashcards
What is ankylosing spondylitis?
Ankylosing spondylitis (AS) is a chronic seronegative spondyloarthropathy which primarily involves the axial skeleton (i.e. sacroiliitis and spondylitis).
The aetiology is unknown but involves the interaction of genetic and environmental factors. A strong association with HLA-B27 exists, particularly in white western European populations.
What is the presentation of AS?
Peak onset is between 20-30 years of age.
Male:female ratio is 3:1. Women tend to have milder or subclinical disease.
Typically a young man who presents with lower back pain and stiffness of insidious onset
Stiffness is usually worse in the morning and improves with exercise.
The patient may experience pain at night which improves on getting up.
Other features - the ‘A’s
-Apical fibrosis
-Anterior uveitis
-Aortic regurgitation
-Achilles tendonitis
This is a type of peripheral enthesitis
Lesions tend to be painful, especially in the morning. There may be associated swelling of the tendon or ligament insertion.
-AV node block
-Amyloidosis
and cauda equina syndrome
peripheral arthritis (25%, more common if female)
Joint involvement is usually asymmetric, involving the hips, shoulder girdle (glenohumeral, acromioclavicular, and sternoclavicular joints), joints of the chest wall (costovertebral joints, costosternal junctions) and symphysis pubis.
In the advanced stages, patients develop loss of lumbar lordosis, buttock atrophy, and an exaggerated thoracic kyphosis with a stooped forward neck sometimes referred to as a ‘question mark posture’.
How do you diagnose AS?
The British Society for Rheumatology recommends that the modified New York criteria be used to diagnose AS.
Clinical criteria:
- Low back pain, for more than three months; improved by exercise, not relieved by rest.
- Limitation of lumbar spine motion in both the sagittal and the frontal planes.
- Limitation of chest expansion relative to normal values for age and sex.
Radiological criterion: sacroiliitis on X-ray.
Definite AS is diagnosed if the radiological criterion is present plus at least one clinical criterion and probable AS if three clinical criteria are present, or if the radiological criterion is present but no clinical criteria are present.
What are the examination findings of AS?
Reduced lateral flexion
Reduced forward flexion - Schober’s test - a line is drawn 10 cm above and 5 cm below the back dimples (dimples of Venus). The distance between the two lines should increase by more than 5 cm when the patient bends as far forward as possible
Reduced chest expansion
When should you think about AF in a px with recurrent low back pain?
AS has an insidious onset and there is often considerable delay in diagnosis. Consider it in anyone with chronic or recurrent low back pain, fatigue and stiffness, especially if:
They are a teenager or young adult.
They have inflammatory back pain and stiffness that improves with exercise but not with rest, wake from sleep during the second half of the night and have morning stiffness lasting >30 minutes.
They have current or previous buttock pain (felt on alternating sides), arthritis, enthesitis, costochondritis, epicondylitis, anterior uveitis, psoriasis or inflammatory bowel disease, or recent infective diarrhoea or sexually transmitted disease.
What are the associated diseases of AS?
Psoriatic arthritis
Reactive arthritis
Enteropathic arthropathy
What are the differentials of AS?
Mechanical back pain RA OA TB Trauma Referred pain Neoplasms Reactive arthritis
What are the investigations for AS?
Blood tests to exclude other diagnoses
X-rays are the most helpful imaging modality in established disease, although they may be normal in early disease.
- Look for sacroiliitis or enthesitis (particularly of the annulus fibrosus). Sacroiliitis initially shows as blurring in the lower part of the joint, then bony erosions or sclerosis occur and widening or eventual fusion of the joint.
- The vertebral bodies may become ‘squared’. In later stages, bony bridges (syndesmophytes) form between adjacent vertebrae, there is ossification of spinal ligaments and, in late disease, there may be complete fusion of the vertebral column (bamboo spine).
- Spinal osteopenia is common.
MRI scanning may be useful in identifying early sacroiliitis. MRI of the sacroiliac joints is more sensitive than either plain X-ray or CT scan in demonstrating sacroiliitis.
What is the management of AS?
-AS is a chronic condition for which there is currently no cure. There are wide individual differences in the impact of AS and the aim of treatment is essentially symptomatic with good control of symptoms, maintenance of function (facilitated by early diagnosis) and management of complications.
-Refer all new or suspected cases of AS to a rheumatologist.
-Physiotherapy, including an exercise programme and postural training, is important to maintain function and, in some severe cases, a period of inpatient intensive rehabilitation may be warranted.
-Non-steroidal anti-inflammatory drugs (NSAIDs) improve the symptoms of the disease and form the cornerstone of treatment. Commence treatment with an NSAID unless contra-indicated and, in those at increased risk of gastrointestinal side-effects, consider the combination of an NSAID and proton pump inhibitor (PPI) or cyclo-oxygenase-2 (COX-2) inhibitor and PPI.
TNF-alpha inhibitors are effective in AS that is poorly controlled with NSAIDs. They should only be used under the care of a rheumatologist.
NICE guidance suggests that etanercept and adalimumab be used in patients with severe AS where:
The modified New York criteria for diagnosis of AS are satisfied.
There is confirmed, sustained active spinal disease over at least 12 weeks.
Maximal, conventional treatment with two or more NSAIDs has failed.
There are no contra-indications present (eg, pregnancy, breast-feeding, significant infection, severe heart failure, demyelinating disease).
Golimumab has recently been recommended by NICE on a similar basis.
Infliximab is not recommended.
What are the complications of AS?
A small minority of patients will develop spinal fusion, which may result in severe kyphosis and a ‘frozen thorax’ with limited motion of the spine.
The fused spine is more susceptible to fracture, even with relatively minor trauma. The kyphosis may also cause respiratory problems, by restricting lung expansion.
Extra-articular manifestations of the disease may cause complications - e.g., blindness from recurrent uveitis.
What is systemic sclerosis?
Systemic sclerosis (SSc) is a multisystem autoimmune disease in which there is increased fibroblast activity resulting in abnormal growth of connective tissue. This causes vascular damage and fibrosis.
Fibrosis occurs in skin, the gastrointestinal (GI) tract, heart, lungs and other internal organs.
Vascular manifestations include secondary Raynaud’s phenomenon, ischaemia of extremities, pulmonary arterial hypertension and renal disease.
What is the classification of systemic sclerosis?
Limited cutaneous systemic sclerosis
Diffuse cutaneous systemic sclerosis
How does limited cutaneous systemic sclerosis present?
Raynaud’s may be first sign
Scleroderma affects face and distal limbs predominately
Associated with anti-centromere antibodies
A subtype of limited systemic sclerosis is CREST syndrome: Calcinosis, Raynaud’s phenomenon, Oesophageal dysmotility, Sclerodactyly, Telangiectasia
How does diffuse cutaneous systemic sclerosis present?
Scleroderma affects trunk and proximal limbs predominately
Associated with scl-70 antibodies
The most common cause of death is now respiratory involvement, which is seen in around 80%: interstitial lung disease (ILD) and pulmonary arterial hypertension (PAH)
Other complications include renal disease and hypertension
Poor prognosis
What is the clinical features of systemic sclerosis?
Common presenting symptoms are Raynaud’s phenomenon (which may precede other symptoms by some years), skin hardening in hands or face and oesophageal symptoms.
Early symptoms can also be nonspecific - e.g., fatigue, musculoskeletal pains and hand swelling.
Both limited and diffuse scleroderma can involve internal organs; the severity of skin changes does not necessarily reflect the severity of internal organ involvement.
