Rheumatology

Question 1

what is mcardle’s disease

Answer 1

autosomal recessive type V glycogen storage disease
caused by myophosphorylase deficiency
this causes decreased muscle glycogenolysis

Question 2

what are the features of mcardle’s disease

Answer 2

muscle pain and stiffness following exercise
muscle cramps
myoglobinuria
low lactate levels during exercise

Question 3

what antibody is MOST LIKELY to be possitive in SLE

Answer 3

ANA

Question 4

what is usually normal in SLE

Answer 4

CRP

ESR is raised

Question 5

what antibody in SLE is associated with congenital heart block

Answer 5

anti ro

Question 6

what is tumour necrosis factor mainly secreted from

Answer 6

macrophages

Question 7

what antibody is associated with limited cutaneous systemic sclerosis

Answer 7

anti centromere

Question 8

antibody associated with diffuse systemic sclerosis

Answer 8

Anti-Scl-70

Question 9

what malignancy are people with sjrogens more at risk of

Answer 9

lymphoid e.g non hodgkins lymphoma

Question 10

what may patients who are allergic to sulphasalazine also be allergic to

Answer 10

aspirin

Question 11

what is denosuman

Answer 11

RANKL inhibitor

prevents development of osteoclasts - used to treat osteoporosis

Question 12

what are a risk factors for pseudogout

Answer 12

haemochromatosis
hyperparathyroidism
acromegaly
low magnesium, low phosphate
Wilson's disease

Question 13

what is osteopetrosis

Answer 13

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.

Question 14

what are the blood results in osteopetrosis

Answer 14

calcium

phosphate and ALP are all normal

Question 15

what eye problems can arise in marfans

Answer 15

upwards lens dislocation (superotemporal ectopia lentis), blue sclera, myopia

Question 16

what type of collagen is primarily affected in ehlers danlo

Answer 16

type 3

Question 17

how is ehlers danlos inheritied

Answer 17

autosomal dominant

Question 18

what is rheumatoid factor

Answer 18

Rheumatoid factor (RF) is a circulating antibody (usually IgM) which reacts with the Fc portion of the patients own IgG.

Question 19

what causes the vision problems in temporal arteritis

Answer 19

anterior ischemic optic neuropathy

Question 20

anti-ribonucleoprotein

Answer 20

mixed connective tissue disease

Question 21

give an adverse affect o fhydroxychloroquine

Answer 21

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

Question 22

what antibody is most common in dermatomyositis and which antibody is most SPECIFIC

Answer 22

ANA positive in 60%

anti-Mi-2 antibodies are highly specific for dermatomyositis, but are only seen in around 25% of patients

Question 23

what is the most common target of pANCA

Answer 23

myeloperoxidase (MPO)

Question 24

what is the most common target of cANCA

Answer 24

serine proteinase 3 (PR3)

Question 25

what antibodies are most specific for SLE

Answer 25

anti Sm and and dsDNA

Question 26

what is the mechanism of action of azathioprine

Answer 26

inhibits purine synthesis

Question 27

outline the management of discoid lupus erythematous

Answer 27

topical steroid --> hydroxychloroquine avoid sun

Question 28

when is urate lowering therapy used in gout

Answer 28

offered after first attach once symptoms have settled

Question 29

what tb drug can cause drug induced lupus

Answer 29

isoniazide

Question 30

name causes of drug induced lupus

Answer 30

Most common causes procainamide hydralazine Less common causes isoniazid minocycline phenytoin

Question 31

what is the mechanism of action of methatrexate

Answer 31

Methotrexate is an antimetabolite that inhibits dihydrofolate reductase, an enzyme essential for the synthesis of purines and pyrimidines

Question 32

give the other features associated with ank spond

Answer 32

``` Apical fibrosis Anterior uveitis Aortic regurgitation Achilles tendonitis AV node block Amyloidosis and cauda equina syndrome peripheral arthritis (25%, more common if female) ```

Question 33

how does methotrexate work?

Answer 33

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.

Question 34

give risk factors for avascular necrosis

Answer 34

previous CHEMO trauma steroids alcohol

Question 35

what antibody is associated with polyarteritis nodosum

Answer 35

no associated positive antibodies usually

Question 36

What is the greatest predictor of future thrombosis in patients with anti-phospholipid syndrome?

Answer 36

lupus anticoagulant

Question 37

what nerve is affected in Meralgia paraesthetica

Answer 37

lateral cutaneous nerve of the thigh

Question 38

what is the most common organisism causing discitis in patients with sickle cell

Answer 38

salmonellA

Question 39

What causes osteogenesis imperfecta

Answer 39

abnormality in type 1 collagen due to decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides

Question 40

what score is useful in assessing or secondayr osteoporosis

Answer 40

z score

Question 41

what antibodies are most specific for polymyosities

Answer 41

anti-jo1

Question 42

which antibody is most COMMON in systemic sclerosis

Answer 42

ANTI NUCLEAR