List II - Less Common 'Know of' Conditions Flashcards
(46 cards)
1
Q
What are the types of seronegative spondyloarthropathies?
A
- Ankylosing spondylitis
- Psoriatic arthritis
- Reiter’s syndrome (including reactive arthritis)
- Enteropathic arthritis (associated with IBD)
2
Q
What are the common features of seronegative spondyloarthropathies?
A
- Associated with HLA-B27
- Rheumatoid factor negative - hence ‘seronegative’
- Peripheral arthritis, usually asymmetrical
- Sacroiliitis
- Enthesopathy: e.g. Achilles tendonitis, plantar fasciitis
- Extra-articular manifestations: uveitis, pulmonary fibrosis (upper zone), amyloidosis, aortic regurgitation
3
Q
What is Paget’s disease (of the bone)?
A
- Disease of increased but uncontrolled bone turnover
- Thought to be primarily a disease of osteoclasts, with excessive osteoclastic resorption followed by increased osteoblastic activity
4
Q
How common is Paget’s disease?
A
- 5% UK prevalence
* Symptomatic in only 1 in 20 patients
5
Q
Which areas of the body are more commonly affected by Paget’s disease?
A
- Skull
- Spine/pelvis
- Long bones of the extremities
6
Q
What are the predisposing factors for Paget’s disease of the bone?
A
- Increasing age
- Male sex
- Northern latitude
- Family history
7
Q
What are the clinical features of Paget’s disease of the bone?
A
- Stereotypical presentation is an older male with bone pain and an isolated raised ALP
- Bone pain (pelvis, lumbar spine, femur)
- Classical untreated features = bowing of tibia, bossing of skull
- Raised ALP - calcium and phosphate are typically normal
- Other markers are of bone turnover including procollagen type I N-terminal propeptide (PINP), serum c-telopeptide (CTx), urinary N-telopeptide (NTx), and urinary hydroxyproline
- Skull x-ray - thickened vault, osteoporosis circumscripta
8
Q
What are the indications for treatment of Paget’s disease of the bone?
A
- Bone pain
- Skull or long bone deformity
- Fracture
- Periarticular Paget’s
9
Q
What are the treatment options for Paget’s disease of the bone?
A
- Bisphosphonate (either oral risedronate or IV zoledronate)
* Calcitonin is less commonly used now
10
Q
What are the complications of Paget’s disease of the bone?
A
- Deafness (cranial nerve entrapment)
- Bone sarcoma (1% if affected for >10 years)
- Fractures
- Skull thickening
- High output cardiac failure
11
Q
What is osteomalacia?
A
- Normal bony tissue but decreased mineral content
- Known as Rickets if it is when growing
- Osteomalacia if after epiphysis fusion
12
Q
What are the different types/mechanisms of osteomalacia?
A
- Vitamin D deficiency e.g. malabsorption, lack of sunlight, diet
- Renal failure
- Drug induced e.g. anticonvulsants
- Vitamin D resistant, inherited
- Liver disease e.g. cirrhosis
13
Q
What are the clinical features of osteomalacia?
A
- Rickets - knock-knee, bow leg, features of hypocalcaemia
* Osteomalacia - bone pain, fractures, muscle tenderness, proximal myopathy
14
Q
What are the investigations for osteomalacia?
A
- Low 25(OH) vitamin D (in 100% of patients, by definition)
- Raised ALP (in 95-100% of patients)
- Low calcium, phosphate (in around 30%)
- X-ray = children - cupped, ragged metaphyseal surfaces, adults - translucent bands (Looser’s zones or pseudofractures)
15
Q
How is osteomalacia treated?
A
- Calcium with vitamin D tablets
16
Q
What is a sarcoma?
A
- Group of malignant tumours of mesenchymal origin
* May either be bone or soft tissue
17
Q
What are the types of bone sarcoma?
A
- Osteosarcoma
- Ewings sarcoma (non bony sites recognised)
- Chondrosarcoma
18
Q
What are the types of soft tissue sarcoma?
A
- Liposarcoma - adipocytes
- Rhabdomyosarcoma - striated muscle
- Leiomysarcoma - smooth muscle
- Synovial sarcoma - close to joints (cell of origin not known but not synovium)
19
Q
What is a malignant fibrous histiocytoma?
A
- Sarcoma that may arise in both soft tissue and bone
20
Q
What are the clinical features of a sarcoma?
A
Certain features of a mass or a swelling should raise suspicion for a sarcoma including:
- Large >5cm soft tissue mass
- Deep tissue location or intra muscular location
- Rapid growth
- Painful lump
21
Q
How should sarcoma be assessed?
A
- Imaging should utilise a combination of MRI, CT and USS
- Blind biopsy should not be performed prior to imaging and where required should be done in such a way that the biopsy tract can be subsequently included in any resection
22
Q
What are the features of Ewings sarcoma?
A
- Commoner in males
- Incidence of 0.3 / 1, 000, 000
- Onset typically between 10 and 20 years of age
- Location by femoral diaphysis is commonest site
- Histologically it is a small round tumour
- Blood borne metastasis is common and chemotherapy is often combined with surgery
23
Q
What are the features of osteosarcoma?
A
- Mesenchymal cells with osteoblastic differentiation
- 20% of all primary bone tumours
- Incidence of 5 per 1,000,000
- Peak age 15-30, commoner in males
- Limb preserving surgery may be possible and many patients will receive chemotherapy
24
Q
What are the features of a liposarcoma?
A
- Malignancy of adipocytes
- Rare, approximately 2.5 per 1,000,000. They are the second most common soft tissue sarcoma
- Typically located in deep locations such as retroperitoneum
- Affect older age group usually >40 years of age
- May be well differentiated and thus slow growing although may undergo de-differentiation and disease progression
- Many tumours will have a pseudocapsule that can misleadingly allow surgeons to feel that they can ‘shell out’ these lesions. In reality, tumour may invade at the edge of the pseudocapsule and result in local recurrence if this strategy is adopted
- Usually resistant to radiotherapy, although this is often used in a palliative setting
25
What are the features of a malignant fibrous histiocytoma?
* Tumour with large number of histiocytes
* Most common sarcoma in adults
* Also described as undifferentiated pleomorphic sarcoma NOS (i.e. Cell of origin is not known)
* Four major subtypes are recognised: storiform-pleomorphic (70% cases), myxoid (less aggressive), giant cell and inflammatory
* Treatment is usually with surgical resection and adjuvant radiotherapy as this reduces the likelihood of local recurrence
26
What is systemic lupus erythematosus (SLE)?
* Multisystem, autoimmune disorder
* Typically presents in early adulthood
* More common in women and people of Afro-Carribean origin
27
What are the general features of SLE?
* Fatigue
* Fever
* Mouth ulcers
* Lymphadenopathy
28
What are the skin features of SLE?
* Malar (butterfly) rash - spares nasolabial folds
* Discoid rash - scaly erythematous, well demarcated rash in sun exposed areas - lesions may become pigmented and hyperkeratotic before becoming atrophic
* Photosensitivity
* Raynaud's phenomenon
* Livedo reticularis
* Non-scarring alopecia
29
What are the MSK features of SLE?
* Arthralgia
| * Non-erosive arthritis
30
What are the CV features of SLE?
* Pericarditis - most common manifestation
| * Myocarditis
31
What are the respiratory features of SLE?
* Pleurisy
| * Fibrosing alveolitis
32
What are the renal features of SLE?
* Proteinuria
| * Glomerulonephritis (diffuse proliferative glomerulonephritis is the most common type)
33
What are the neuropsychiatric features of SLE?
* Anxiety
* Psychosis
* Seizures
34
What are the renal complications associated with SLE?
* WHO classification class IV - diffuse proliferative glomerulonephritis
- Most common and severe form associated with SLE
- Renal biopsy characteristically shows the following findings:
- Glomeruli shows endothelial and mesangial proliferation 'wire-loop' appearance
- If severe, the capillary wall may be thickened secondary to immune complex deposition
- Electron microscopy shows subendothelial immune complex deposits
- Granular appearance on immunofluorescence
35
What is the management of diffuse proliferative SLE in the kidneys?
* Treat hypertension
* Corticosteroids if clinical evidence of disease
* Immunosuppressants e.g. azathioprine / cyclophosphamide
36
What are the investigations for SLE?
* 99% are ANA positive - makes it a useful rule out test but it has a low specificity
* 20% are rheumatoid factor positive
* Anti-dsDNA = highly specific (>99%) but less sensitive (70%)
* Anti-Smith = highly specific (>99%), sensitivity (30%)
37
How is SLE monitored?
* Inflammatory markers
- ESR is generally used
- During the active disease CRP is characteristically normal - a raised CRP may indicate underlying infection
* Complement levels (C3, C4) are low during active disease (formation of complexes leads to consumption of complement)
* Anti-dsDNA titres can be used for disease monitoring (not present in all patients)
38
What is drug induced lupus?
* Not all the systemic lupus features are seen - renal and nervous system involvement unusual
* Resolves on stopping the drug
39
What are the clinical features of drug induced lupus?
* Arthralgia
* Myalgia
* Skin (malar rash) and pulmonary involvement (e.g.pleurisy) are common
* ANA positive in 100%, dsDNA negative
* Anti-histone antibodies are found in 80-90%
* Anti-ro, anti-smith positive in 5%
40
What are the most common / less common causes of drug induced lupus?
Most common
- Procainamide
- Hydralazine
Less common
- Isoniazid
- Minocycline
- Phenytoin
41
What is systemic slcerosis?
* Condition of unknown aetiology characterised by hardened, slcerotic skin and other connective tissues
* Four times more common in females
42
What are the three main patterns of disease in systemic sclerosis?
* Limited cutaneous systemic sclerosis
* Diffuse cutaneous systemic sclerosis
* Scleroderma
43
What are the features of limited cutaneous systemic sclerosis?
* Raynauds may be the first sign
* Scleroderma affects face and distal limbs predominately
* Associated with anti-centromere antibodies
* Subtype of limited systemic sclerosis is CREST syndrome - calcinosis, Raynaud's phenomenon, oEsophageal dysmotility, sclerodactyly, telangiectasia
44
What are the features of diffuse cutaneous systemic sclerosis?
* Scleroderma affects trunk and proximal limbs predominately
* Associated with scl-70 antibodies
* Most common cause of death is now respiratory involvement, which is seen in 80%: interstitial lung disease and pulmonary hypertension
* Other complications include renal disease and hypertension
* Poor prognosis
45
What are the features of scleroderma (without organ involvement)?
* Tightening and fibrosis of skin
| * May be manifest as plaques (morphoea) or linear
46
What are the anti-bodies associated with systemic sclerosis?
* ANA positive in 90%
* RF positive in 30%
* Anti-scl-70 antibodies associated with diffuse cutaneous systemic sclerosis
* Anti-centromere antibodies with limited cutaneous systemic sclerosis
