diseases Flashcards
what is rheumatoid arthritis
autoimmune condition that causes chronic inflammation of the synovial lining of the joints, tendon sheaths and bursa
genetic associations of rheumatoid arthritis
HLA DR4
HLA DR1
antibodies associated with rheumatoid arthritis
rheumatoid factor present in 70% of RA patients
anti-CCP antibodies are autoantibodies that are more specific to rheumatoid arthritis
presentation of rheumatoid arthritis
pain swelling stiffness
symmetrical distal polyarthropathy
fatigue, weight loss, flu like illness
pain worse after rest but improves with activity
common joints affected by rheumatoid arthritis
PIP joints MCP joints wrist and ankle metatarsophalangeal joints cervical spine large joints
atlantoaxial ubluxation
occurs in the cervical spine
can cause spinal cord compression
signs of rheumatoid arthritis in the hands
palpation of the synovium feels boggy
z shaped deformity to the thumb
swan neck deformity
boutonnieres deformity- due to a tear in the central slip of the extensor componenets of the fingers
ulnar deviation of the fingers at the knuckle
extra-articular manifestations of rheumatoid arthritis
pulmonary fibrosis bronchiolitis obliterans felty's syndrome (RA, neutropenia, splenomegaly) secondary sjogrens syndrome CV disease episcleritis and scleritis
investigations of rheumatoid arthritis
check RF and anti-CCP
inflammatory markers such as CRP and ESR
X ray of hands and feet
Xray changes in RA
joint destruction and deformity
soft tissue swelling
periarticular osteopenia
boney erosions
management of RA
short term- NSAIDS/COX-2 inhibitors
first line: methotrexate, leflunomide or sulfasalazine
second line: two in combination
third line: methotrexate plus biological therapy usually TNF inhibitor
what is psoriatic arhtritis
inflammatory arthritis associated with psoriasis
seronegative spondyloarthropathy
presentation of asymmetrical pauciarthritis
affects mainly the digits and feet
spondylitic pattern presents
more commonly in men back stiffness sacroiliitis atlanto-axial joint involvement (spine, achilles tendon, plantar fascia)
signs of psoriatic arthritis
plaques of psoriasis pitting of nails onycholysis dactylitis enthesitis eye disease aortitis amyloidosis
xray changes in psoriatic arthritis
periostitis ankylosis osteolysis dactylitis pencil in cup appearance
management of psoaritic arthritis
NSAIDS for pain
DMARDs
anti-TNF medications
ustekinumab last line
what is reactive arthritis
synovitis occurs in the joints as a reaction to a recent infective trigger
typically causes an acute monoarthritis, affecting a single joint in the lower limb
most common infections that trigger reactive arthritis
gastroenteritis or chlamydia
associated conditions with reactive arthritis
bilateral conjunctivitis
anterior uveitis
circinate balanitis
management of reactive arthritis
given antibiotics until septic arthritis is excluded
aspirate the joint and sample for gram staining, culture and sensitivity
NSAIDs
steroid injections
systemic steroids may be required
what is ankylosing spondylitis
inflammatory condition mainly affecting the spine that causes progressive stiffness and pain
part of seronegative spondyloarthropathy
key joints affected in AS
sacroiliac joints and joints of the vertebral column
presentation of AS
young adult male
symptoms develop gradually over 3 months
lower back pain and stiffness and sacroiliac pain
worst with rest and improves with movement
worse at night
flares
systemic presentation of AS
weight loss and fatigue chest pain enthesitis dactylitis anaemia anteror uveitis aoritis IBD
schober’s test
used to examine AS
investigations for AS
inflammatory markers
HLA B27 genetic test
Xray of spine and sacrum
MRI of the spine can show bone marrow oedema
management of AK
NSAIDs
steroids can be used durinng flares
anti-TNF medications
bisphosphonates
used to prevent or slow done bone thining
what is SLE
inflammatory autoimmune connective tissue disease
relapsing-remitting
pathophysiology of SLE
characterised by anti-nuclear antibodies (antibodies to proteins within own cell nucleus)
causes immune system to target these proteins
generates inflammatory response
presentations of SLE
fatigue and weight loss arthralgia and non-erosive arthritis myalgia fever photosensitive malar rash (buttergly) lymphadenopathy and splenomegaly SOB mouth ulcers hair loss raynaud's phenomenon
investigations for SLE
autoantibodies
FBC
CRP and ESR urinalysis and urine protein:creatinine for proteinuria
autoantibodies associated with SLE
associated with anti-nuclear antibodies- 85%
anti-double stranded DNA- specific to SLE 70%
complications of SLE
CV disease
infection
anaemia
pericarditis
treatment of SLE
anti-inflammatory medication and immunosupression
- NSAIDs
- steroids (prednisolone)
- hydroxychloroquine
what is systemic sclerosis
autoimmune inflammatory and fibrotic connective tissue disease
two main patterns of systemic sclerosis
limited cutaneous systemic sclerosis
diffuse cutaneous systemic sclerosis
limited cutaneous systemic sclerosis features
calcinosis raynauds oEsophageal dysmotility sclerodactylyl telangiectasia
diffuse cutaneous systemic sclerosis features
all the same as limited plus
- CV problems
- lung problems
- kidney problems
autoantibodies present in systemic sclerosis
antinuclear antibodies
anti-centromere antibodies - limited cutaneous
anti-scl-70 antibodies- diffuse cutaneous
management of systemic sclerosis
steroids and immunosuppresants
nifedipine for raynauds
anti-acid medications- PPI
analgesia for joint pain
what is polymyalgia rheumatica
inflammatory condition that causes pain and stiffness in shoulders, pelvic gridle and neck
strong association with GCA
common features of polymyalgia rheumatica
bilateral shoulder pain that may radiate to elbow bilateral pelvic girdle pain worse with movement interferes with sleep stiffness for at leat 45 mins in morning
treatment of polymyalgia rheumatica
steroids
- prednisolone
What is GCA
a systemic vasculitis of the medium and large arteries
key complication of GCA
vision loss- high dose steroids used immediately
symptoms of GCA
severe unilateral headahce typically around temple and forehead scalp tenderness jaw claudication blurred or double vision systemic symptoms
findings on temporal artery biopsy that show GCA
multinucleated giant cells
management of GCA
steroids
aspirin
PPI
what is anti-phospholipid syndrome
disorder associated with antiphospholipid antibodies where the blood becomes prone to clotting
associations with antiphospholipid syndrome
venous thromboembolism
arterial thrombosis
pregnancy complications
management of antiphospholipid syndrome
long term warfarin with an INR of 2-3 is used to prevent thrombosis
what is sjogren’s syndrome
autoimmune condition that affects the exocrine glands
symptoms of sjogren’s syndrome
dry mucous membranes
such as dry mouth, eyes and vagina
associated antibodies with sjogren’s syndrome
anti-Ro and anto-La
test used in sjogren’s syndrome
schirmer test
management of sjogren’s syndrome
artificial tears
artificial saliva
vaginal lubricants
hydroxychloroquine
complications of sjorgren’s syndrome
eye infections
oral problems
vaginal problems
vasculitis
inflammation of blood vessels
types of small vessel vasculitis
henoch schonlein purpura
eosinophilic granulomatosis with polyganiitis
microscopic polyangiits
granulomatosis with polyangiitis
types of vasculitis affecting medium vessels
polyarteritis nodosa
eosinophilic granulomatosis with polyangiitis
kawasaki disease
types of vasculitis affecting the large vessels
GCA
takayasu arteritis
presentation of vasculitis
purpura joint and muscle pain peripheral neuropathy renal impairment gastrointestinal disturbance anterior uveitis and scleritis hypertension systemic manifestations
tests for vasculitis
inflammatory markers
anti neutrophil cytoplasmic antibodies (anca)
- p-ANCA and c-ANCA
management of vasculitis
depends on the type steroids immunosuppressants: - cyclophosphamide - methotrexate - azathioprine - rituximab
henoch- schonlein purpura
IgA vasculitis that commonly presents with a purpuric rash affecting the lower limbs or buttocks in children
gout
crystal arthropathy associated with chronically high blood uric acid levels
monosodium urate crystals are deposited in the joint causing it to be hot and swollen
gout tophi
subcutaneous deposits of uric acid typically affecting the small joints and connective tissue of hand, elbows and ears
presentation of gout
single acute hot, swollen and painful joint
typical joints affected by gout
base of big toe
wrists
base of thumb
diagnosis of gout
clinical aspiration of fluid from the joint - no bacterial growth - needle shaped crystals - negative birefringement of polarised light exclude septic arthritis
management of gout
during acute flare: NSAIDs, colchicine, steroids
prophylaxis: allopurinol
pseudogout
crystal arthropahy caused by calcium pyrophosphate crystals
deposited in the joint
presentation of pseudogout
older adult with hot swollen stiff painful knee
other joints affected: shoulders, wrists and hips
diagnosis of pseudogout
exclude septic arthritis
aspirate joint: no bacterial growth, calcium pyrophosphate crystals, rhomboid shaped crystals, positive birefringent of polarised light
management of pseudogout
NSAIDS colchicine joint aspiration steroid injections oral steroids
paget’s disease
disorder of bone turnover
excessive bone turnover due to excessive activity of both osteoblasts and osteoclasts
leads to areas of high density and low density
peripheral rash
raynauds
ulceration
cryoglobulinaemia
what is cryoglobulinaemia
form of vasculitis characterised by a large number of cold sensitive antibodies in blood
associations with cryoglobulinaemia
membranoproliferative glomerulonephritis - haematuria and proteinuria SOB chest pain pleural effusions GI bleeding
management of cryoglobulinaemia
NSAIDs
where ineffective:
- corticosteroids and steroid-sparing agents (cyclophosphamide)
what is polymyositis
disease that causes muscles to become irritated and inflammaed
muscle eventually starts to break down and become weak
clinical presentation of polymyositis
muscle pain and stiffness insidious onset usually symmetrical. proximal muscle muscle weakness: belly, shouldrs, upper arms, hips joint pain and stiffness irregular heart rhythms
presentation of dermatomyositis
same and polymyositis
rash on hands and knuckles- gottrons
rash around eyes- heliotrope
rash on neck and chest- shawl sign
heliotrope rash
rash around eyes
associated with dermatomyositis
gottrons sign
rash on hands and knuckles
associated with dermatomyositis
investigations for polymyositis/dermatomyositis
Bloods- CK, inflammatory markers
elecyromyelogram
MRI
muscle biopsy
treatment of polymyositis
corticosteroids
immunosuppression:
- azathioprine, methotrexate, ciclosporin
osteochondroma
commonest benign tumour which produces bony outgrowth on external surface
clinical presentation of osteochondroma
hard mass that is painless and doesnt move lower than normal age for height one leg shorter than the other pressure or irritation with exercise soreness of near by muscle
enchondroma
benign bone tumour that originates from cartilage
giant cell tumour
predilection for the metaphyseal region
tend to involve epiphysis
most commonl appear on lower end of femur or upper tibia
presentation of giant cell tumour
painful
may cause pathological fracture
can metastasize to the lung
pain with movement
soap bubble appearance
giant cell tumour
treatment of giant cell tumour
intralesional excision with use of phenol, bone cement or liquid nitrogen
fibrous dysplasia
usually occuring during adolescence where a genetic mutation results in lesions of fibrous tissue and immature bone
chondrosarcoma
cartilage producing primary bone tumour
less common
less aggressive than osteoscarcoma
clinical presentation of chrondrosarcoma
large mass on affect bone- usually pelvis or proximal femur
feeling of pressure around the mass
pain- worse at night
local swelling
osteosarcoma
most common type of primary bone tumour
ewing’s syndrome
malignant tumour of primitive cells in the marrow
rare type of cancer
most often begins in leg bones and pelvis
myeloma
malignant B cell proliferation
