Rheumatology Flashcards
Reactive arthritis triad
classically presents as part of a triad including urethritis, conjunctivitis, and arthritis (though not all features need to be present)
keratoderma blennorrhagicum
keratoderma blennorrhagicum on the soles of his feet - a waxy yellow rash pathognomonic for reactive arthriti
Dermatomyositis antibodies
ANA most common, anti-Mi-2 most specific
DerMI-2myositis.
Anti-scl-70 antibodies
associated with systemic sclerosis (scleroderma)
Anti-Jo-1 antibodies,
idiopathic inflammatory myopathies, particularly polymyositis
Anti-centromere bodies
limited cutaneous systemic sclerosis (also known as CREST syndrome: Calcinosis, Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasia)
cytokines is the most important in the pathophysiology of rheumatoid arthritis?
TNF alpha
Leflunomide
Leflunomide is a disease modifying anti-rheumatic drug (DMARD) mainly used in the management of rheumatoid arthritis. It has a very long half-life which should be remembered considering it’s teratogenic potential
McArdle’s disease
McArdle’s disease is a phenotypically mild glycogen storage disorder that presents in late adolescence or early adulthood with exertional rhabdomyolysis with a textbook ‘second wind phenomenon’, in which patients develop muscle cramps and fatigue with subsequent recovery with continued exercise. The description of the patient’s muscle cramping that spontaneously resolves during the race harkens to this second wind phenomenon.
MMF MoA
inhibits inosine monophosphate dehydrogenase, which is needed for purine synthesis
as T and B cells are particularly dependent on this pathway it can reduce the proliferation of immune cells
Reactive arthritis is associated with which one of the following HLA antigens
HLA b27
HLA-A3:
Hemochromatosis, Myasthenia Gravis
HLA-DR4:
Rheumatoid Arthritis
HLA-B51:
Behcet’s disease
B51 = Behcet = Be5ce1
HLA-DR3:
SSLE
early-onset Myasthenia Gravis, Hashimoto’s thyroiditis, primary sclerosing chloangitis
And also HLA DR3 associated with
dermatitis herpetiformis
Sjogren’s syndrome
primary biliary cirrhosis
What is the most common target of pANCA
Myeloperoxidase is a neutrophil protein whose primary role is the generation of oxygen free radicals.
What is the most common target of cANCA
Serine proteinase 3 (PR3)
treatment of choice for SLE
Hydroxychloroquine
Typical findings of AION on fundoscopy
a swollen, pale optic disc with blurred margins. This is a sight-threatening condition and requires immediate admission and treatment with high-dose corticosteroids.
underlying malignancies associated with dermatomyositis
typically ovarian, breast and lung cancer
Anti-dsDNA antibodies are associated
systemic lupus erythematosus (SLE)
Circinate balanitis
Circinate balanitis is a well-documented mucocutaneous manifestation of reactive arthritis, particularly in male patients. It presents as serpiginous white plaques on the glans penis and is considered highly characteristic of the condition
Denosumab
RANK ligand inhibitor for secondary prevention of osteoporosis.
neonatal lupus erythematosu
can result from maternal autoantibodies crossing the placenta. It is strongly associated with anti-SSA/Ro antibodies and complications commonly include congenital heart block, skin rashes and hepatosplenomegaly
Ro Ro Ro your boat gently (ie. slowly for CHB) down the spleen
megaly megaly megaly megaly, lupus is but a dream
Collagen defect in classical ehlers danlos
vascular - type 3 collagen, classical - type 4 collagen
Collagen types
1 is in bONE
2 is in carTWOlage (catilage)
3 vEssEls
4 is in the floor, that is basement membranes of lungs an
What serum marker shows active disease in SLE and can be used for monitoring active disease?
Complement levels - low in active disease
ESR is generally used
High anti-dsDNA antibody levels typically suggest active disease in SLE.
HLA B8
Grave’s disease.
polyarteritis nodosa antibodies
Perinuclear-antineutrophil cytoplasmic antibodies (pANCA)
Polyarteritis nodosa (PAN) is a vasculitis affecting medium-sized arteries with necrotizing inflammation leading to aneurysm formation. PAN is more common in middle-aged men and is associated with hepatitis B infection.
Anti-cyclic citrullinated peptide antibodies are associated
withrheum arthrtiis
Marfans genetics
Marfan’s syndrome is an autosomal dominant connective tissue disorder. It is caused by a defect in the FBN1 gene on chromosome 15 that codes for the protein fibrillin-1.
McArdle’s disease
Glycogen storage disease - presents in adolescance
McArdle sounds Scottish. Famously, Scottish people can walk 500 miles then walk 500 more. This is because of their second wind!
Teriparatide
a recombinant form of human parathyroid hormone (PTH) that may be used in the treatment of osteoporosis
Antiphospholipid syndrome blood findings
Antiphospholipid syndrome: (paradoxically) prolonged APTT + low platelets
Rickets XR
Rickets can present as widening of the wrist joints due to an excess of non-mineralized osteoid at the growth plate
Marfan’s syndrome is caused by a mutation in a protein called
fibrillin-1
MarFAN , 1 FAN in the ceiling with 5 blades
CHROMOSOME 15
UPWARD LENS DISLOCATION
HIGH ARCHED PALATE
Fibrillin1
(Think ceiling fan which is 1 and high/up on the ceiling)
fibrillin-1 mutation
Marafans syndrome
MarFAN , 1 FAN in the ceiling with 5 blades
CHROMOSOME 15
UPWARD LENS DISLOCATION
HIGH ARCHED PALATE
Fibrillin1
(Think ceiling fan which is 1 and high/up on the ceiling)
Hydroxychloroquine monitoring
Visual acuity/fundoscopy
Hydroxychloroquine - may result in a severe and permanent retinopathy
gout vs psuedogout
Chondrocalcinosis helps to distinguish pseudogout from gout
gout - -vely birifinegent needle shaped cystals
psuedogout -weakly-positively birefringent rhomboid-shaped crystals
Rheumatoid arthritis: x-ray changes
RA
L – loss of joint space
E – erosions
S – soft tissue swelling
S – soft bones (osteopenia)
A - juxta-Articulat osteoporosis and joint subluxation
OA X ray changes
OA:
L – loss of joint space
O – osteophytes
S – subchondral sclerosis
S – subchondral cysts
mixed connective tissue disease Ab
Anti-ribonuclear protein (anti-RNP) = mixed connective tissue disease
Mixed connective tissue disease is a multisystem rheumatological disorder typically affecting females between 30 and 40 years of age. Raynaud’s phenomenon is the initial symptom in 90% of cases and patients can have a multitude of symptoms and signs. Usually, anti-nuclear antibodies are positive and anti-U1RNP must be positive for a diagnosis to be made. Anti-U1RNP can be seen in other disorders such as systemic sclerosis and systemic lupus erythematosus, and so antibodies for these conditions, anti-centromere and anti-Scl70 along with anti-dsDNA, respectively, must be negative.
ultrasound scan conforms the presence of an effusion and states the ‘double contour’ sign was observed. What is the most likely diagnosis?
gout
Anakinra MoA
Anakinra is IL-1
Easily remembered as the story of Anakin starts with episode 1
L3 nerve root compression
Sensory loss over anterior thigh
Weak hip flexion, knee extension and hip adduction
Reduced knee reflex
Positive femoral stretch test
3rd line treatment of psoratic athritis
apremilast: phosphodiesterase type-4 (PDE4) inhibitor → suppression of pro-inflammatory mediator synthesis and promotion of anti-inflammatory mediators
Ankylosing spondylitis extra features
Ankylosing spondylitis features - the ‘A’s
Apical fibrosis
Anterior uveitis
Aortic regurgitation
Achilles tendonitis
AV node block
Amyloidosis
RA extra-articular complications
respiratory: pulmonary fibrosis, pleural effusion, pulmonary nodules, bronchiolitis obliterans, methotrexate pneumonitis, pleurisy
ocular: keratoconjunctivitis sicca (most common), episcleritis, scleritis, corneal ulceration, keratitis, steroid-induced cataracts, chloroquine retinopathy
osteoporosis
ischaemic heart disease: RA carries a similar risk to type 2 diabetes mellitus
increased risk of infections
depression
Less common
Felty’s syndrome (RA + splenomegaly + low white cell count)
amyloidosis
Gonococcal arthritis presents with a triad of
Dermatitis
Tenosynovitis
Migratory polyarthritis.
risk factor for pseudogout
heamochromatosis
what antibodies are a marker of poor prognosis in rheumatoid arthritis
Anti-CCP
XR findings of Ank spond
Ankylosing spondylitis:
Syndismocytes formation
Subchondoral erosions
Sclerosis
Squiring of vertebra
Romanus leasion
Bamboo spine
X-ray finding of:
1- pseudogout: chondrocalcinosis
2- gout: larg punched out erosions in x-ray (tophi), double contour sign on US
3- Psoriatic arthritis:
Erosive changes and new bone formation
Periostitis
Pencil in cup appearances
4- Ankylosing spondylitis:
Syndismocytes formation
Subchondoral erosions
Sclerosis
Squiring of vertebra
Romanus leasion
Bamboo spine
5- Rheumatoid arthritis:
Soft tissue swelling
Subchondoral osteoporosis
Joint space narrowing
Subluxation and Ankylosis
6- Osteoarthritis:
Joint space narrowing
Osteophytes
Subchondoral cyst
7- Paget’s disease:
Lytic and sclerotic lesions on skul e.g.
8- Rickets:
Winding of wrist joint
Cupping, fraying and ……
Widening of epiphysis
9- osteopetrosis:
Bone on bone lesions
10- Osteomalacia:
Translucent bands (looser’s zones or pseudofracture)
Osteoporosis treatment
bisphosphonates are the first-line drug treatment for patients at risk of fragility fractures
oral bisphosphonates such as alendronate and risedronate are typically first-line. These are often taken weekly are need taking in a particular way to minimise the risk of oesophageal side-effects
however, the NOGG recommend IV zoledronate as the first-line treatment following a hip fracture. This is given yearly
denosumab is generally used as a second-line treatment
other possible treatment options include:
strontium ranelate
raloxifene
teriparatide
romosozumab
Septic arthritis - most common organism
: Staphylococcus aureus
urinary/serum hydroxyproline
increased in Pagets (its a marker of bone destructions) §
Hydroxyproline is mostly used as a diagnostic marker of bone turnover and liver fibrosis.
Anti-Smith antibody
Anti-Smith antibody is another highly specific antibody for SLE.
Limited (central) systemic sclerosis =
anti-centromere antibodies
Diffuse systemic sclerosis
Anti-Scl-70 antibodies
Bone pain, tenderness and proximal myopathy (→ waddling gait) → ?
?osteomalacia
SLE SPECIFIC Ab
SLE: ANA is 99% sensitive - anti-Sm & anti-dsDNA are 99% specific
SLE antibodies
SLE antibodies
-Most sensitive»_space;> ANA (ANA : -ve > unlikly to be SLE = ana is negative predictive value)
-Most specific»_space; Anti Smith
-Used during flare»_space; Anti-dsDNA (rise during flare) , c3/c4 (decreased)
-drug-induced lupus (eg: hydralazine )» antihistone
-neonatal lupus erythematosus(congenital heart block): anti-Ro or anti-La antibodies
anti-synthetase syndrome.
proximal myopathy in combination with mechanic hands, which are associated with anti-synthetase syndrome.
Anti-synthetase syndrome is related to dermatomyositis/polymyositis. Findings include relatively acute disease onset, constitutional symptoms (eg, fever and weight loss), myositis, the Raynaud phenomenon, mechanic’s hands, arthritis that is generally nonerosive, and interstitial lung disease. Patients have antibodies towards tRNA synthetase.
Consider the diagnosis if antisynthetase Ab positive PLUS 2 of the following: ILD, inflammatory myopathy, inflammatory polyarthritis.
Srojens increases what cancer risk?
Lymphoma
Patients with Sjogren’s syndrome have an increased risk of lymphoid malignancies
Drug-induced lupus
In drug-induced lupus not all the typical features of systemic lupus erythematosus are seen, with renal and nervous system involvement being unusual. It usually resolves on stopping the drug.
ANTI HISTONE AB
Most common causes
procainamide
hydralazine
Less common causes
isoniazid
minocycline
phenytoin
Osteopetrosis
also known as marble bone disease
rare disorder of defective osteoclast function resulting in failure of normal bone resorption
results in dense, thick bones that are prone to fracture
bone pains and neuropathies are common.
calcium, phosphate and ALP are normal
stem cell transplant and interferon-gamma have been used for treatment
three antiphospholipid antibodies
lupus anticoagulant, beta-2 glycoprotein antibody, and cardiolipin antibody
What is the greatest predictor of future thrombosis in patients with anti-phospholipid syndrome?
lupus anticoagulant
Osteopetrosis is due to a defect in:
osteoclast function
Discoid lupus erythematous
Scalp rashes WORSE in sun
Discoid lupus erythematous - topical steroids → oral hydroxychloroquine
What is unusual in drug-induced lupus
Glomrulonephritis
Which vasculitis is associated with +ve Hepatitis B serology
Polyarteritis nodusa
Lofgren syndrome
Lofgren’s syndrome (bilateral hilar lymphadenopathy, erythema nodosum, polyarthritis and fever) in sarcoidosis -> associated with GOOD prognosis
HCV and low complement think
cryoglobulinaemia
Hepatiitis C associated wiirh what derm condition?
porphyra cutanea taarda
