CDP rheum + eye

What is the typical profile of SLE pts.?

Young F (Asian / AA)

What is the mechanism behind lupus? What environmental trigger can provoke lupus rash?

Systemic immune dysregulation (B-cell driven dx) d/t infectious/environmental triggers

UV light exposure (photosensitivity) — nasolabial folds-sparing malar rash w/n days.

What non-skin PE findings suggest lupus?

• serositis: Pleural / pericardial rub

• “boggy“ synovitis

• joint involvement

• fever

• if renal involvement = edema

• if mononeuritis multiplex = wrist / foot drop

What are the cutaneous manifestations of lupus?

• malar rash sparing nasolabial folds + systemic rash ± non-scarring (sub)acute / scarring discoid

• painless oral ulcers

• petechiae / bleeding gums

What are key diagnostic labs for lupus?

• ANA titer >1:80 from immunofluorescence, NOT ELISA (predates clinical sx by years!)

• antibodies: dsDNA / Smith (low sensitivities tho!)

• other immunological markers: SS-A / SS-B / RNP / low complements

• UA w/ spot urine protein:creatinine to ck renal involvment

• CBC / CMP

  • pancytopenia esp thrombocytopenia + anemia (AI hemolytic = + COOMBS)

• TSH, free T4

What types of symptoms are not caused by lupus?

• Chronic LBP / widespread myofascial pain

• OA

• immediate sx d/t UV exposure

• weight gain (w/ exercising)

• chronic fatigue

• asthma

What is the preferred initial treatment for lupus?

Hydroxychloroquine (HCQ) + prednisone (rapid relief, short term!!!) for FLARE-UPS

What defines organ-threatening lupus? How to tx?

• Nephritis

• CNS involvement “neuropsych / cerebritis lupus “

• mononeuritis multiplex

• severe thrombocytopenia

Tx + CALL RHEUM

• IV steroid pulse x 3-5 days (super high-dose)

• potent immunosuppressant (cyclophosphamide / mycophenolate / azathioprine)

Why are estrogens avoided in SLE patients?

Estrogen increases thromboembolic risk esp w/ (+) antiphospholipid antibodies

caution w/ estrogenic contraceptives! → poor pregnancy outcomes

use progesterone instead!

When should a lupus patient be referred to rheum? What can a general PCP handle?

• suspected lupus

• possibly wrong dx

• new organ involvement

• medication adjustment

PCP are able to handle:

• infxn in ambulatory pt.

• age-appropiate health maint.

• DEXA

• contraceptives

What is the pathophysiology of APLS?

Autoantibodies bind phospholipids → disrupt clotting → venous & arterial thrombosis → pt. is in a hypercoagulable state

usually presents as secondary APLS

What obstetric complications are linked to APLS?

• >3 early (<10 wks) miscarriages

• 1+ late (10+ wks) miscarriages

• premature delivery

How to diagnose APLS?

thrombotic event + a (+) & a repeat lab 12+ wks later = APLS

• Lupus anticoagulant

• Anti-cardiolipin antibodies

• anti-beta-2-glycoprotein I

What is the treatment for confirmed APLS?

• Lifelong anticoagulation — warfarin preferred

What is Sjögren’s syndrome?

Chronic AI inflammation of salivary glands → sicca complex

What complication of Sjögren’s is life-threatening?

Increased risk of B-cell lymphoma.

What are hallmark symptoms of Sjögren’s syndrome?

• SICCA COMPLEX = DRY eyes (xerophthalmia) / mouth (xerostomia)

• sialdenitis = painful swollen salivary glands

• sialedocholithiasis = stone obstruction in salivary glands

• fatigue + polyarthralgia

• small-fiber NON-dermatomal neuropathy = bizarre descriptions

What PE findings suggest Sjögren’s?

• Enlarged lacrimal and salivary glands

• decr. tears / saliva

• poor dentition

• synovitis

What autoantibodies + confirmatory procedure is done for Sjögren’s?

• ANA / anti-Ro (SSA) / anti-La (SSB)

• ± Sm / RNP / RF

• Minor salivary gland (lip) bx → lymphocytic infiltration

  • reserved for when labs are (-) d/t incr. complications

• score of 4+ for dx critera (SICCA sx required!) = Sjogren’s

What treatments are available for Sjögren’s?

• PF artificial tears + night-time eye ointment

• lots of trials → typically non-efficacious

• f/u regularly w/ dentist & ophtho

• consider sialogogues (pilocarpine / cevimiline)

• d/c exacerbating products/meds (foamy toothpaste) + lubricating meds (sugar-free lozenges)

• HQC (50/50) = controversial

• ≠ response to immunosuppressants / steroids

When to refer to rheum for Sjogren’s Syndrome? What can PCP handle?

• strong suspicion of SICCA ± (+) anti-RO

• PCP can handle sicca sx (≠ steroids needed)

What is systemic sclerosis?

AI disease causing skin and internal organ fibrotic inflammation d/t interferon-y + vasculopathy.

vs morphea (localized scleroderma): no systemic dx assoc.

What are the clinical manifestations of systemic sclerosis (both subtypes)?

• ALWAYS fingers involvement (over 3-5 yrs)

  • swollen → sclerodactyly (≠ wrinkles / hair, shiny & smooth, itchy)

  • Raynaud’s phenomenon (white → blue → red)

  • “salt & pepper“ pigment changes

  • ± finger ulcers → gangrene

What features are specific to limited scleroderma?

• distal+ from elbow / knees / head

• PAH (late complication)

  • centromere ANA staining pattern

  • DOE / hypoxia / fixed, split S2

  • annual ECHO / PFTs

  • definitive dx = right heart cath.

  • tx w/ vasodilators

• CREST:

  • Calcinosis

  • raynauds

  • esophogeal issues

  • skin fibrosis

  • telangiectasias

What features are specific to diffuse scleroderma?

"Tendon friction rubs

• proximal+ from elbow / knees (everywhere!)

• ILD (early complication)

  • anti-Scl-70

  • cough / dyspnea / “velcro“ crackles

  • restrictive PFT

  • tx w/ immunosuppression

    • mycophenolate

    • cyclophosphamide

    • nintedanib

    • tociluzumab

• Renal crisis (AKI w/ hematuria)

How to dx systemic sclerosis?

• r/o other rheum mixed connective tissue dx: ANA, dsDNA, smith, Ro, La, etc

• CXR → Chest CT if concerned

• annual PFT / ECHO

What is the treatment of systemic sclerosis?

• raynaud’s = DHP-CCB

• PAH = vasodilators

• ILD = immunosupressant (mycophenolate)

• BAD prognosis = lung + renal involvement

• skin = try DMARDs

What are the different main Idiopathic Inflammatory Myopathy (IIM) subtypes?

Polymyositis - ≠ skin involvement

Dermatomyositis - skin rashes

BOTH assoc w/ malignancy w/n 5 yrs

statins can cause myalgias, rhado, necrotizing myopathy

What is the hallmark symptom of IIM?

• Symmetrical muscle weakness (proximal >>) + NO PAIN

• severe = dysphagia + diaphragm weakness → dyspnea / ILD

What physical signs are seen in dermatomyositis?

• Heliotrope rash on eyes

• Shawl sign

• V sign

• gottrron’s papules on dorsal MCP

• Periungual erythema

• mechanic hands (super dry, cracked, scaly)

What labs support diagnosis of IIM?

• ↑ CK + aldolase

• myositis panel: Jo-1, Pm-Scl, CADM-5, OJ, Ku

• EMG/NCV (before referral)

• definitive, not always done = muscle bx esp for posterity

• ± ANA, dsDNA, Sm, RNP, etc.

• IF necrotizing: anti-HMG-CoA-reductase + SRP

• IF breathing issues: PFT + chest imaging

What imaging confirms inflammatory myopathy?

MRI shows muscle edema; EMG may help.

What is first-line treatment for inflammatory myopathies?

Short-term steroids + HCQ

add-ons:

• steroid-sparing immunomodulator (MTX / AZA / IVIg / etc.)

• Rituximab / tofacitniib

What steps before IIM referal to rheum?

• d/c offending meds & exercise → ck CK/aldolase 7-10 days later

• EMG/CNV

• avoid steroids

What is a large-vessel vasculitidy that is super RARE affecting women < 40 y/o?

Takayasu arteritis: likely to occur in Asia

• absent pulses + asymmetric BP in extremities

• IF renal artery stenotic → HTN + BRUITS

Dx + Tx for Takayasu?

• elevated ESR/CRP

• MRA or CTA: luminal stenosis + vessel wall thickening

• PET-CT: to ck if active

• Tissue Bx: rare

Tx w/ steroids + DMARD or biologics

Which dx affects 50+ y/o & linked to HLA-DR4?

Polymyalgia Rheumatica: likely to dx in Scandanavia alongside GCA/temporal arteritis (5%)

• ACUTE onset (malaise + fatigue + unintentional WL)

• Morning stiffness >>> 30 mins

• shoulder/hip girdle pain, tenderness, weakness EXCEPT in distal

• carpal tunnel

what dx markers are required to dx Polymyalgia Rheumatica?

ESR/CRP!!

• men = age/2 // women = (age+10)/2

TSH, free T4,

Ck + aldolase to r/o rhado, myositis

RF + anti-CCP to r/o RA, synovitis

temporal artery bx if concerned for GCA

Mgmt for PMR:

• low-dose steroids!!! → 1-3 yrs for rheum to taper dose

  • >20mg of steroids to feel better = NOT PMR

• IF GCA → EMPIRIC HIGH-DOSE steroid pulse + urgent referral for bx

What is the other large-vessel vasculitis affecting >50+ y/o linked to HLA-DRB1 and is a T-cell mediated dx?

GCA “temporal arteritis“: involves AORTA + other branches but NOT RENAL

50% of GCA pt has PMR (stiffness > 30 mins, shoulder/hip girdle pain, carpal tunnel, distal strength preserved)

What are GCA sx + fundoscopic findings?

• UNILATERAL temporal HA + JAW CLAUDICATION + SUDDEN, MONOCULAR VISION LOSS (amaurosis fugax)

• scalp necrosis + tongue ulcers

fundoscopic exam:

• arteritic anterior ischemic optic neuropathy = pale, swollen optic n. w/ CRAO

What is the major risk in GCA?

Permanent vision loss → EMPIRIC high-dose prednisone pulse or tociluzumab (SEVERE, ≠ steroid candidate)

What labs support GCA diagnosis?

• ↑ ESR/CRP

• confirmed by temporal artery biopsy w/n 4 wks of steroids

  • giant cells + infiltrates

  • temporal artery US instead in Europe

What conditions are associated with PAN?

• medium vessel vasculitis

• assoc. w/ HEP B/C & Hairy cell leukemia (very rare!)

What is hallmark of PAN?

• SMA post-prandial intestinal angina

• testicular pain (acute orchitis)

• ulcers + SQ nodules

• IF renal artery involved → AKI w/ hematuria ± proteinuria

• IF mononeuritis multiplex → wrist/foot drop

What are the dx studies in PAN?

• Microaneurysms = 'beading + stenosis' in affected arteries.

• definitive = tissue bx

• Hep & HIV panel

• ANCA + C3/4 + cultures to r/o other

Mgmt for PAN?

• STEROIDS!!! → cyclophosphamide

  • consider rituximab w/ more research coming out!

• tx HEP if (+)

What is the medium-vessel vasculitis affecting ASIAN PEDs (< 5 y/o)?

Kawasaki dx: affects coronary arteries (aneurysms + thrombosis)

MOA = unknown but dysregulated immune respone

Which medium vessel vasculitis causes “strawberry tongue”?

Kawasaki dx!

• F + malaise ± arthralgias

• inflammatory eye dx (uveitis, conjunctivitis, etc.): photophobia + blurry vision

• cervical LAD

Dx + Tx for Kawasaki’s?

• elevated ESR/CRP

• lymphopenia + reactive thrombocytosis

• ECHO

Tx

• IVIg ± steroids for severe, resistant dx

What are the 3 main ANCA-associated small vessel vasculitides?

• GPA = cANCA / PR3

• MPA = pANCA / MPA or MPO

• Eosinophilic = 50/50 pANCA / MPA or MPO

• ALL = necrotizing + pauci-immune

What features are typical of GPA?

• Sinus & lung + renal involvement

  • bloody nose crust

  • diffuse alveolar hemorrhage

  • proteinuria ± AKI

  • pulm. granulomas ± infiltrates

What is MPA?

• renal involvement >>> than lungs

  • proteinuria ± AKI

• risk of renal relapse!!

What defines EGPA?

• resistant adult-onset ASTHMA!!!

• early eosinophils in peripheral blood smear

• eosinophils on bronchoscopy/BAL/skin specimens

• variable sx

  • HF, Stroke, mesenteric ischemia, GI bleeds, colitis, glomerulonephritis

What is dx + tx for ANCA vasculitis?

• CONFIRM W/ TISSUE BX ± pulm bx + renal bx

  • granulomas, pauci-immune depositions, cresenteric, RPGN

• bronchoscopy + serial aliquots but still blood return +

• Tx: Empiric IV steroid pulse x 3 days + rituximab or cyclophosphamide

  • add-on: C5a receptor inhibitor

What features do all spondyloarthropathies share?

"HLA-B27+

What are hallmark symptoms of AS?

"Inflammatory back pain: improves with activity

What are classic imaging findings in AS?

"Sacroiliitis

What extra-articular features occur in AS?

"Uveitis

How is AS treated?

NSAIDs → TNF inhibitors.

How does psoriatic arthritis differ from RA?

"Asymmetric joints

What joint is affected early in psoriatic arthritis?

DIP joints.

How is psoriatic arthritis treated?

NSAIDs → DMARDs → TNF/IL-17 inhibitors.

What is the triad of reactive arthritis?

"Conjunctivitis

What infections precede reactive arthritis?

"GI (Salmonella

What is treatment for reactive arthritis?

"NSAIDs

What IBDs cause enteropathic arthritis?

Crohn’s and ulcerative colitis.

What joints are affected in enteropathic arthritis?

"Knees

What highly variable AI dx occurs more commonly in a “Silk Road“ distribution?

Bechet’s syndrome: linked to HLA-B51

What is the hallmark of Behçet’s?

• Recurrent EXQUISITELY PAINFUL oral and genital ulcers (esp scrotum!!!)→ spares the external lips

• ocular involvement: uveitis, retinal vasculitis

• rashes + neuro + vasculitis + GI

What dx studies support Behçet’s diagnosis + tx?

• vasculitis dx studies: angiogram for large, bx for medium/small

• Tx w/ colchicine + apremilast (oral ulcers) + prednisone ± cytotoxic agent

What dx is a chronic (6+ wks) polyarticular arthritis that middle age people. It targets small joints >>> sparing the DIP?

rheumatoid arthritis: T-cell mediated → antibodies precede s/s by years

• rf = smoking + HLA-DRB1

• ± ILD (dyspnea + cough), scleritis, episcleritis, SQ/pulm. nodules, and incr. CAD risk

What dx…? What can cause a false (+) RF?

• symmetrical inflammatory arthralgias >6 weeks; SPARES the DIP, plantar, lumbar back

• prolonged morning stiffness (>30mins)

• elevated CRP/ESR, positive RF and CCP antibodies

• X-ray → peri-articular osteopenia + joint space narrowing & erosion

• MRI/US → SYNOVITIS + developing erosions

RA

ck HEP B/C panel incase (+) RF = false

What is the treatment approach for RA?

1. NSAIDs/steroids

2. DMARDs (methotrexate, leflunomide, hydroxychloroquine, sulfasalazine)

   • 2a. add-on more DMARDS / biologics PRN (TNF inhibitors, IL-6R blockers, CTLA4-analogue, or anti-CD20 (rituximab)

3. JAK inhibitors = last line

Refer if synovitis is present → ck CCP, RF, HEP panel

What are the manifestations of psoriatic Arthritis?

• assoc. w/ IBD, inflammatory eye dx, HIV

• (-) RF and CCP

• RASH (can bx to confirm) → arthritis

• affects the DIP joints

  • enthesitis, dactylitis, bursitis, tendonitis, nail pitting, and telescoping digits.

• prolonged morning stiffness >30 mins

XRAY shows:

• pencil-in-cup deformities

• marginal erosions (like RA)

• bone formation (like OA)

What are the treatment options for PsA?

• HIGH-DOSE NSAIDS = disease-modifiying

  • if fail → MTX

• IF advanced PsA (spine involvement) = Biologics (TNF inhibitors, IL-17A blockers, IL-12/23 blockers or PDE4 inhibitor)

When to refer to rheum for Psa?

Psoriasis + inflammatory arthralgia

high-dose NSAIDs for 2 wks prior while pending

What are the clinical hallmarks of Spondyloarthritis?

• Chronic back → butt pain in men <40 years

  • improves with activity

  • pt. oftens wakes up d/t to pain

• morning stiffness >30 min

• Associated with HLA-B27 (90% of cases) → PsA

What are the different spondyloarthritis?

• ankylosing: axial involvement → XR = fused sacroiliitis + bamboo spine

• non-radiographic: (-) XR → (+) MRI

• peripheral: assoc. w/ enteropathic (IBD), reactive (recent infxn) PsA

What 2 PE tests can you do to ck for spondyloarthritis?

• FABER (Patrick’s): pain in ipsilateral SI joint

• mod. Schober’s: mark pts. at SI joint & 10cm proximally → forward flexion → normal if >5cm expansion

How is AS managed?

elevated CRP predicts better response to tx

NSAIDs = first-line

biologics + targeted DMARDs = 2nd-line ONLY for peripheral arthritis

What is Reactive Arthritis and its classic triad?

post-infectious arthritis (GI or GU infection)

• GI bacteria // Chlamydia trachoamtis

classic Triad: Reiter’s syndrome (arthritis, conjunctivitis, urethritis)

• cant’t pee, see, climb a tree

± dactylitis, enthesitis, oligoarticular synovitis, circinate balanitis, keratoderma blenorrhagicum

can self-resolve w/n 6 mos or become chronic = spondyloarthritis (HLA-B27+)

Dx studies & Tx for Reactive Arthritis?

• HLA-B27+

• ↑CRP/ESR

• MRI/CT/US

• labs to r/o other conditions

Tx w/ high-dose NSAIDs = first-line + Abx if active infxn + steroids = 2nd-line + refer

• Use DMARDs → TNF inhibitors for chronic disease / unresponsive

An older man dx w/ CKD drank beer, ate red meat + shellfish + organ meats last night woke up w/ a painful swollen red big toe.

what is it?

Gout: Monosodium urate crystal deposition d/t serum uric acid fluctuations

• incr. risk if metabolic syndrome or medications!

• hyperuricemia > 7mg/dL required to dx

What are the clinical manifestations for Acute Gout?

Severe mono/oligo- arthritis (podagra) → EXQUISITELY PAINFUL, SWOLLEN, RED → self-resolving

• usually in LE

• ± desquamation of skin

LOW-GRADE FEVER (vs septic arthritis = high fever)

What are the clinical manifestations for CHRONIC Gout?

polyarticular inflammatory arthralgia in SMALL & INTERMEDIATE joins

• prolonged stiffness > 30 mins

• improves w/ LIGHT act.

± SQ tophi nodules = pathognomonic (firm, not tender, white-yellow extrusion)

synovitis!! (boggy + tender ± effusion)

How is gout diagnosed?

DEFINITIVE = Joint aspiration analysis: yellow, negatively birefringent needle-shaped crystals + high WBC

XR: crystals radiolucent but bones eroded (““Rat bite erosions) in CHRONIC/SEVERE

U/S: double contour sign = deposition of uric acid = NOT DX, only helpful

How are acute gout attacks treated and when is ULT started?

START tx w/n 24hrs of acute attacks!!

• HIGH-DOSE: NSAIDs OR colchicine (w/n 36hrs) OR steroids

CHRONIC: Start ULT (allopurinol / febuxostat or pegloticase = last line) if ≥2 flares/year, tophi, urate nephropathy

Target uric acid <6 (tophi → <5 mg/dL)

What genetic condition causes uric-acid over-production? What are acquired causes?

Lesch-Nyhan syndrome (deficiency in hypocanthine-guanine phosphoribosyl transferase)

Acquired causes:

• Psoriasis

• Myelo/lymphoproliferative dx

• tumor lysis syndrome

• lead intoxication

What causes pseudogout and how does it differ from gout?

Calcium pyrophosphate crystals (CPPD) → chondrocalcinosis → rhomboid crystals are positively birefringent

Affects larger joints, Never tophi!!

Elderly population assoc. w/ OA, hypothyroidism, hyperPTH, hemochromatosis, hypoMg, hypoPO4

WBC lower than gout;

What is the tx for pseudogout?

same as acute gout!! BUT if flares change → consider arthrocentesis + analysis

recurrent = daily prophylaxis

rheum for tx options

ortho for OA

What is fibromyalgia and how is it diagnosed?

chronic, widespread CNS pain disorder with fatigue, sleep problems, cognitive dysfunction.

assoc. w/ abuse/trauma + depression/anxiety + HA/migranes

W>>>M

DxoE: tenderness to LIGHT palpation + NO synovitis

inform pt. meds only will improve a little bit → use ones that tx psych + neuropathy (muscle relaxants)

suggest low-impact exercise + pyschological therapy

How is osteoporosis diagnosed and what are risk factors?

DEXA: T ≤ -2.5 or fragility fracture

Risk factors: post-menopause, steroids, PPI, smoking, low BMI, alcoholism

Tx:

• Calcium, vitamin D, bisphosphonates = first-line

  • 25(OH)D > 30

  • caution for bisphosphonate use if renal imparied

• high risk add-ons: denosumab, teriparatide, romosozumab

• Monitor with DEXA and FRAX