Transcript Rheumatology Basics

Rheumatology Basics
Kalyani McCullough, MD
Clinics and MOP Didactic
Purpose of this talk
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To provide a foundation for:
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Seeing patients in Rheumatology clinic
Getting started on the work-up of suspected
rheumatologic diseases in your clinic
Review most common rheumatologic
diseases
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Fast overview
Resource for later
Main diseases you’ll be seeing
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Inflammatory arthritis
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Crystal arthritis
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Gout, Pseudogout
Autoimmune disorders
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Rheumatoid, spondyloarthropathies
Lupus, Sclerodema, Autoimmune myositis
Vasculitis
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Large, medium, small vessel
What are some clues your patient may
have a rheumatologic disease?
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Constitutional symptoms
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Subacute time course
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Started over weeks to months
Characteristic symptoms
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Fevers, sweats, weight loss, fatigue
Mono or polyarticular joint pain, multisystem
complaints (i.e. skin, lung, GI)
Are there signs of an inflammatory process?
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Synovitis, rash, serositis, elevated ESR/CRP
How do you get started on the
work-up?
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Thorough physical exam
Lab tests
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Radiographs
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CBC w diff, ESR, CRP, ANA, targeted
autoantibodies
Erosive arthritis, sacroillitis
Biopsy?
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Skin, muscle, kidney
Basics of treatment
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NSAIDs
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Glucocorticoids
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Symptom relief, especially joint pain
Acutely, try to use steroid sparing agent if possible
Disease-modifying antirheumatic drugs (DMARDs)
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Synthetic DMARDs
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Slow onset, 2-6 months
Methotrexate, Hydroxychloroquine, Sulfasalazine, Azathioprine,
Mycophenolate mofetil, Cyclophosphamide
Biologic DMARDs
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Bioengineered protein drugs (antibodies or receptor-antibody chimeras )
IV or SQ only
Rapid onset
Screen for and treat LTBI, HBV first
Infliximab, Etancercept, Rituximab
Steroid Side Effects
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Weight gain
Diabetes
Cataracts
Insomnia
Fluid retention
Hypertension
Proximal weakness
Alopecia
Sweats
Osteoporosis
Infection
Psychiatric disturbance (eg, depression, mania, psychosis)
Easy bruising of the skin
Stress
Tremor
Peptic ulcer disease
Long term considerations for most
autoimmune diseases
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Increased risk of CV death due to inflammation
and accelerated atherosclerosis
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Osteoporosis from glucocorticoids
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Aggressive risk factor reduction: BP<120/80,
LDL<100
Dexa screening, Calcium-Vit D, bisphosphonates prn
Infections
Increased risk of certain malignancies
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Lymphoma, Lung/Cervical CA in Lupus
Inflammatory Arthritis
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Rheumatoid arthritis
Spondyloarthropathies
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Axial skeletal involvement and polyarthritis of
peripheral joints
Ankylosing spondylitis
 Reactive arthritis
 Psoriatic arthritis
 IBD-associated arthritis
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Rheumatoid arthritis
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Clinical presentation:
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Chronic, symmetric polyarthritis
Often starts with the PIPs, MCPs, MTPs
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Labs:
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Can affect most synovial joints (wrists, knees, elbows etc.)
Doesn’t affect DIPs
Morning stiffness, pain, swelling (vs. OA: worse with activity)
RF, anti-CCP Ab or both in 70% of patients
RF not specific, anti-CCP 90-98% specific
ACD, ESR, CRP
Xrays:
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articular erosions and joint space narrowing
Joint distribution in RA vs. OA
RA – Physical Exam Findings
• Ulnar deviation
• at mcps
• Swan neck deformity
• hyperextension of
PIPs, flexion of DIPs
• Boutonniere deformity
• flexion of PIP,
hyperextension of DIP
OA – Physical Exam Findings
Bony outgrowths/
calcific spurs on
PIPs and DIPs
RA – Extra-articular Manifestations
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Many extra-articular
findings:
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Rheumatoid nodules
Other organ involvement:
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Sjogren’s syndrome
Scleritis
Interstitial fibrosis
Pericardial effusions
Peripheral neuropathy
Amyloidosis
RA - Treatment
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Early aggressive treatment leads to better
longterm outcomes
Glucocorticoids acutely
MTX frequently used
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Start 7.5mg weekly, increase to a max dose of 2025mg weekly
Give with folate 1mg daily to reduce toxicity
Check CBC, AST/ALT, Cr q 3 mo
Contraindications: liver disease, HBV/HCV, alcohol
use, CrCl<30
Toxicities: oral ulcers, nausea, hepatotoxicity, BMS,
pneumonitis
Sponydloarthropathies
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Inflammatory arthritis with involvement
of:
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Sacroiliac (SI) joint
Axial spine
Tendon fascia
Ligament insertion points (entheses)
Peripheral joints
Spondyloarthropathies
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Ankylosing Spondylitis
Psoriatic Arthritis
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Reactive Arthritis
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DIPs often involved, assoc with nail pitting
Triggered by GI/GU infection
IBD-associated arthritis
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Correlates with bowel activity
Ankylosing Spondylitis
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Clinical presentation
 Inflammatory back
pain in young adult
 Reduction in spinal
mobility, particularly
lumbar flexion
 Association with
anterior uveitis
Labs
 Increased relative risk
of HLA-B27
•Xray
- Sacroiliitis
•Treatment
- PT, NSAIDs
Crystal Arthritis
Gout – Natural History
1) Asymptomatic hyperuricemia
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Over production or under excretion (or both)
2) Acute and intermittent gout
Attacks triggered by fluctuations in UA level (up or
down) and deposition of UA crystals in joint
 Acute monoarthritis, often 1st attack is at 1st mtp
 After years see bony erosions on xray
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3) Chronic tophaceous gout
Gout - Treatment
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Acute attack – most efficacious if initiate
treatment within 48h of onset
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NSAIDs – indomethacin
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Colchisine
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Avoid if h/o PUD or renal impairment
1.2mg PO x 1, then 0.6mg 1h later and q24h until symptoms
improve
Side effects: Diarrhea, abdominal pain, NSAIDs better
tolerated
Reduce dose if Cr > 1.5, risk of neuromuscular toxicity
Glucocorticoids
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Prednisone 20-40mg/d, taper 1-2 wks after symptoms resolve
Gout - Prophylaxis
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Goal UA<6
Xanthine oxidase inhibitors (decrease production)
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Allopurinol
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Febuxostat
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Start with 100mg daily, gradually increase dose
Max is 800mg/d, though 300-400mg usually effective
Reduce dose if diminished Cr
Hypersensitivity reaction can be fatal, more common in older
patients with impaired Cr on diuretics
If develop rash, stop
Metabolized by liver, so better with renal impairment
Ok with mild-moderate hepatic insufficiency
Uricosuric agents (increase excretion)
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Probenacid
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Age <65, good renal function, not on more than ASA 81 daily
Side effects: rash and GI symptoms
Pseudogout
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Clinical presentation
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Labs
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Intermittent monoarthritis, often knee/wrist, though
can be 1st mtp
rhomboid shaped, positively birefringent calcium
pyrophosphate dihydrate (CPPD) crystals
Can be associated with other diseases:
hemochromatosis, thyroid disease
Treatment
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NSAIDs, colchisine
Autoimmune disorders
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Systemic lupus erythematosis (SLE)
Antiphospholipid antibody syndrome
Raynaud’s phenomenon
Scleroderma
Sjogren’s Disease
Dermatomyositis and Polymyositis
Relapsing Polychondritis
Lupus
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Clinical presentation
 Typically affects women
of childbearing age
 Multisystem
relapsing/remitting
disease
 Affects skin,
musculoskeletal, renal,
CV, pulmonary, GI, CNS,
psych
- Hallmark symptoms: photosensitive rash,
polyarthritis, serositis, fatigue
- Renal and CNS involvement -> significant
morbidity
Lupus
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Labs
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Presence of antinuclear
antibodies
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Anti-dsDNA and anti-Sm
have great specificity, but
lack sensitivity.
Hypocomplementemia may
occur during flares.
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Once ANA positive, no need to
recheck
C3, C4, CH50
Treatment
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Glucocorticoids, DMARDs
Lupus - Monitoring
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Lupus nephritis – approx 50%
 Typically immune complex glomerulonephritis
 Screen q3 mo:
 Ask about polyuria, nocturia, foamy urine
 Look for HTN and edema
 Labs: UA – RBC casts, spot prot: Cr ratio
 Diagnose with biopsy
Increased risk of malignancy: Hodkin’s and NonHodgkins lymphoma, Lung CA, Cervical CA
 Annual cervical CA screening
Scleroderma
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Clinical presentation
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Early in disease:
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Late in disease:
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msk pain, fatigue, weight loss, GERD
Rare disorder, but symptoms common in primary care
Skin: thickening, ischemic digital ulcers, pitting, telangectasias on
face and palms
Lungs: interstitial fibrosis, pulmonary htn
GI: GERD, dysphagia
Renal: rare, but Scleroderma Renal Crisis (SRC) is life threatening
emergency
Cardiac: ischemic injury
MSK: erosive arthritis, tendon friction rub
CREST (limited scleroderma): calcinosis, raynaud’s,
esophageal dysmotility, sclerodactyly, telangectasias
Scleroderma
Digital ulcers
Sclerodactyly
Thickened, tight skin
Telangectasias
Scleroderma
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Labs
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If negative ANA, diagnosis is very unlikely
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Anti-centromere Ab in 20-40%
Anti-Scl-70 (anti-topoisomerase) 20-40%
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Indirect immunofluorescence better than ELISA
Correlates with worse prognosis
Treatment
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No proven disease-modifying medication
Screening and early identification of internal organ
involvement important
Organ specific treatment
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Fibrosis – immunosuppresion
Renal crisis – ACEi
GERD – PPI and behavioral change
Autoimmune myositis
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Polymyositis (PM)
Dermatomyositis
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Dermatomyositis sine myositis (just skin)
Dermatomyositis sine dermatitis (classic
muscle biopsy findings)
Immune-mediated necrotizing myopathy
(IMNM)
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Statin exposure
Autoimmune myositis
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Clinical presentation
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Symmetric, proximal muscle weakness that
develops over weeks to months
Difficulty rising from a chair, walking up steps, washing or
brushing hair
 If severe: dysphagia and respiratory distress from
weakness of neck, pharyngeal and diapghragmatic
muscles
 Distal weakness very uncommon, suspect another
diagnosis
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Dermatomyositis
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Clinical Presentation: Skin
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Gottron papules: raised
violaceous lesions at extensor
surfaces of mcp, pip, dip
Gottron sign: erythematous
rash at above sites
Heliotrope rash: red/purplish
discoloration of eyelids
Dermatomyositis
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Shawl sign: erythematous rash
across posterior neck and shoulders
V sign: erythematous rash on
anterior neck and chest
Mechanic’s hands/feet:
hyperkeratotic skin thickening, often
with painful cracking
Autoimmune myositis
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Labs
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Elevated CK, aldolase, AST, ALT, LD from damaged
muscle cells
Auto antibodies (anti-Jo-1, anti PL-7)
ANA positive in >50%
Antisynthetase syndrome in dermatomysoitis: also
with ILD, arthritis, fevers, raynaud’s
MRI: muscle edema, fascial inflammation
EMG: irritable myopathy
Muscle biopsy: generally nonspecific findings,
but rules out non-autoimmune myopathies
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DM: perifascicular atrophy is specific
Autoimmune myositis
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Treatment
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Glucocorticoids to control acute disease
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Taper to lowest effective dose
Steroid sparing agent: MTX, azathioprine
Exercise: especially isometric, avoid heavy
weight lifting
Autoimmune myositis vs. PMR
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Polymyalgia Rheumatica (PMR)
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aching and stiffness of neck, shoulders, hips
(vs. weakness)
Elevated ESR >40
Age >50
Rapid response to prednisone 20mg/d or less
Association with GCA, but can occur
independently too
Mixed Connective Tissue Disease
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Overlap syndrome with features of SLE,
Scleroderma and Polymyositis
Characteristic clinical symptoms:
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Raynaud phenomenon, hand edema,
synovitis, inflammatory muscle disease,
sclerodactyly
High titers of anti-U1 RNP autoantibody
Vasculitis
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Inflammatory destruction of blood vessels
Occlusion, rupture, thrombus can lead to
tissue ischemia
Vary in severity and presentation based on
vessels affected
Vasculitis
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Clinical presentation
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Constitutional symptoms
Subacute
Signs of inflammation
Multisystem disease
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i.e. Mononeuritis multiplex
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Labs
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Distinct/named peripheral nerves infarcted one at a time
Due to vasculitis of vasa nervorum leading to ischemia
Hallmarks are asynchrony and asymmetry
Diagnose with biopsy
Treatment
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Disease specific, often immunosuppressive therapy
In Summary
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Suspect a rheumatologic process in patients with
subacute onset of constitutional symptoms, signs of
inflammation and multi system involvement
Get work-up started with thorough PE, targeted labs and
xrays
Consult with Rheum and consider getting prednisone
started to control acute disease, with a goal of tapering
to the lowest effective dose when possible
Monitor for the longterm complications of autoimmune
disease
Questions?