Rheumatology Flashcards
what is mcardle’s disease
autosomal recessive type V glycogen storage disease
caused by myophosphorylase deficiency
this causes decreased muscle glycogenolysis
what are the features of mcardle’s disease
muscle pain and stiffness following exercise
muscle cramps
myoglobinuria
low lactate levels during exercise
what antibody is MOST LIKELY to be possitive in SLE
ANA
what is usually normal in SLE
CRP
ESR is raised
what antibody in SLE is associated with congenital heart block
anti ro
what is tumour necrosis factor mainly secreted from
macrophages
what antibody is associated with limited cutaneous systemic sclerosis
anti centromere
antibody associated with diffuse systemic sclerosis
Anti-Scl-70
what malignancy are people with sjrogens more at risk of
lymphoid e.g non hodgkins lymphoma
what may patients who are allergic to sulphasalazine also be allergic to
aspirin
what is denosuman
RANKL inhibitor
prevents development of osteoclasts - used to treat osteoporosis
what are a risk factors for pseudogout
haemochromatosis hyperparathyroidism acromegaly low magnesium, low phosphate Wilson's disease
what is 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.
what are the blood results in osteopetrosis
calcium
phosphate and ALP are all normal
what eye problems can arise in marfans
upwards lens dislocation (superotemporal ectopia lentis), blue sclera, myopia
what type of collagen is primarily affected in ehlers danlo
type 3
how is ehlers danlos inheritied
autosomal dominant
what is rheumatoid factor
Rheumatoid factor (RF) is a circulating antibody (usually IgM) which reacts with the Fc portion of the patients own IgG.
what causes the vision problems in temporal arteritis
anterior ischemic optic neuropathy
anti-ribonucleoprotein
mixed connective tissue disease
give an adverse affect o fhydroxychloroquine
bull’s eye retinopathy - may result in severe and permanent visual loss
recent data suggest that retinopathy caused by hydroxychloroquine is more common than previously thought and the most recent RCOphth guidelines (March 2018) suggest colour retinal photography and spectral domain optical coherence tomography scanning of the macula
baseline ophthalmological examination and annual screening is generally recommened
what antibody is most common in dermatomyositis and which antibody is most SPECIFIC
ANA positive in 60%
anti-Mi-2 antibodies are highly specific for dermatomyositis, but are only seen in around 25% of patients
what is the most common target of pANCA
myeloperoxidase (MPO)
what is the most common target of cANCA
serine proteinase 3 (PR3)
what antibodies are most specific for SLE
anti Sm and and dsDNA
what is the mechanism of action of azathioprine
inhibits purine synthesis
outline the management of discoid lupus erythematous
topical steroid –> hydroxychloroquine
avoid sun
when is urate lowering therapy used in gout
offered after first attach once symptoms have settled
what tb drug can cause drug induced lupus
isoniazide
name causes of drug induced lupus
Most common causes
procainamide
hydralazine
Less common causes
isoniazid
minocycline
phenytoin
what is the mechanism of action of methatrexate
Methotrexate is an antimetabolite that inhibits dihydrofolate reductase, an enzyme essential for the synthesis of purines and pyrimidines
give the other features associated with ank spond
Apical fibrosis Anterior uveitis Aortic regurgitation Achilles tendonitis AV node block Amyloidosis and cauda equina syndrome peripheral arthritis (25%, more common if female)
how does methotrexate work?
Methotrexate is an anti-metabolite that targets the building blocks of DNA, purines, by inhibiting dihydrofolate reductase and therefore preventing the reduction of dihydrofolic acid to tetrahydrofolic acid.
give risk factors for avascular necrosis
previous CHEMO
trauma
steroids
alcohol
what antibody is associated with polyarteritis nodosum
no associated positive antibodies usually
What is the greatest predictor of future thrombosis in patients with anti-phospholipid syndrome?
lupus anticoagulant
what nerve is affected in Meralgia paraesthetica
lateral cutaneous nerve of the thigh
what is the most common organisism causing discitis in patients with sickle cell
salmonellA
What causes osteogenesis imperfecta
abnormality in type 1 collagen due to decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides
what score is useful in assessing or secondayr osteoporosis
z score
what antibodies are most specific for polymyosities
anti-jo1
which antibody is most COMMON in systemic sclerosis
ANTI NUCLEAR
