Uncommon Rheumatic Diseases

Question 1

what is Raynaud’s phenomenon?

Answer 1

spasm of arteries cause episodes of reduced blood flow

Question 2

PE findings of scleroderma

Answer 2

Raynaud's phenomena 
edematous fingers 
capillary loop abnormalities in cuticles 
firm induration of skin on hands 
SOB, bibasilar crepitations in lungs

Question 3

lab/DI findings of scleroderma

Answer 3

positive ANA, anti-Scl-70
XR: interstitial pulmonary fibrosis
pulmonary function studies: low diffusion capacity
barium swallow: dilated esophagus

Question 4

describe scleroderma

Answer 4

autoimmune, rheumatic, and chronic disease that affects the body by hardening connective tissue
thickening and fibrosis of skin 
internal involvement (GI, pulmonary, renal, cardiac)

Question 5

define limited systemic sclerosis

Answer 5

skin disease distal to elbow and knee but may involve face and neck

organ involvement late and limited

anti-centromere antibody may be present

Question 6

define diffuse systemic sclerosis

Answer 6

trunk, proximal and distal limbs

organ involvement early and severe

anti-Scl 70 antibody present

Question 7

CREST syndrome for scleroderma

Answer 7

calcinosis
raynaud's 
esophageal dysfunction 
sclerodactyly
telangiectasia

Question 8

natural history of limited systemic sclerosis

Answer 8

Raynaud’s prior to other features

vasculopathy major morbidity

Question 9

natural history of diffuse systemic sclerosis

Answer 9

rapidly progressive
early onset pulmonary fibrosis
internal life threatening illness

Question 10

Tx for scleroderma

Answer 10

vasculopathy - calcium channel, phosphodiesterase, endothelin inhibitors
fibrogenesis - fibroblast inhibition
abnormal immune response immunosuppressive drugs (cyclophosphamide, cellcept, rituximab)

Question 11

describe dermatomyositis/polymyositis

Answer 11

inflammation of striated muscle
F>M
may be associated with malignancy in older patients

Question 12

presentation of dermatomyositis/polymyositis

Answer 12

fatigue, normal muscle bulk, proximal muscle weakness, painless

skin: red scaly patches over knuckles and extensor surfaces (Gottron’s papules)
heliotrophic rash
abnormal capillary loop
shawl sign

Question 13

lab findings for dermatomyositis/polymyositis

Answer 13

increased CK
anti Jo-1 (DM, lung, mechanic's hands)
anti-SRP (cardiac involvement)
anti-Mi
anti-CADM 140 (Asians)
CXR: interstitial lung disease 
EMG: myopathic features
biospy: damage and inflammation

Question 14

pathogenesis of dermatomyositis/polymyositis

Answer 14

dermatomyositis: immune complexes, complement activation, microangiopathy, Ab
polymyositis: direct T cell mediated muscle attack

Question 15

Tx for dermatomyositis/polymyositis

Answer 15

corticosteroids (prednisone)
methotrexate/azathioprine
IVIG
TNF blockers 
T-cell inhibitors 
rituximab (B-cell inhibitors)
cyclophosphamide

Question 16

describe granulomatosis with polyangitis (Wegner’s disease)

Answer 16

inflammation of various tissues, but mainly affects resp. tract and kidneys

Question 17

presentation of Wegner’s disease

Answer 17

skin:
burning pain 
red sports 
pitting edema 
palpable purpura 
livedo reticularis (lace-like purple rash)
wrist drop (radial nerve damage)
lungs:
SOB
bloody sputum
fever, chills, weight loss 
neuropathy

Question 18

investigation for Wegner’s disease

Answer 18

elevated ESR
normal LFT
hematuria and proteinuria 
positive cANCA/PR3-ANCA
CXR: nodular infiltrates 
skin: leukocytoclastic vasculitis 
nerve conduction studies: mononeuritis multiplex

Question 19

when should you suspect vasculitis?

Answer 19

unexplained constitutional signs
skin lesions (palpable purpura)
ischemic vascular changes
glomerulonephritis 
mononeuritis multiplex
myalgia, arthralgia/arthritis 
abdominal angina or testicular pain