Rheumatology and Connective Tissue Diseases Review

A set of vocabulary flashcards covering major rheumatologic and connective tissue disease concepts, diagnostics, and treatments.

ANA (antinuclear antibody)

Autoantibody commonly positive in connective tissue diseases; helpful for identifying ANA-associated conditions but not diagnostic on its own.

RA (rheumatoid arthritis)

Chronic systemic inflammatory disease with symmetric polyarthritis, especially small joints; may show ulnar deviation, swan neck, boutonniere deformities; DMARDs (start with methotrexate) slow disease progression.

Anti-CCP antibody

More specific than RF for rheumatoid arthritis; supportive in diagnosis but not solely diagnostic.

Rheumatoid factor (RF)

Autoantibody often positive in RA but nondiagnostic; can be present in other diseases.

DMARDs

Disease-modifying antirheumatic drugs that slow RA progression; include nonbiologics (e.g., methotrexate, sulfasalazine, hydroxychloroquine) and biologics (e.g., TNF inhibitors, IL inhibitors, JAK inhibitors).

Methotrexate

First-line nonbiologic DMARD for RA; hepatotoxic risk; folic acid supplementation reduces toxicity; unsafe in pregnancy.

Hydroxychloroquine

Nonbiologic DMARD used in RA and lupus; retinal toxicity risk requiring regular eye exams.

TNF inhibitors

Biologic DMARDs that block tumor necrosis factor; effective for inflammatory arthritis but increase infection risk (TB reactivation); usually used after MTX failure.

Interleukin inhibitors

Biologic DMARDs targeting interleukins (e.g., IL-1, IL-6) used in RA and other inflammatory diseases; share infection risks and monitoring needs.

JAK inhibitors

Oral small-molecule DMARDs that inhibit the JAK-STAT pathway; ends with -nib; used when MTX/biologics fail; carry infection and other boxed warnings.

Seronegative spondyloarthropathies

Group of inflammatory conditions (e.g., AS, reactive arthritis, psoriatic arthritis, enteropathic arthritis) not associated with ANA; often HLA-B27 positive.

Ankylosing spondylitis (AS)

Chronic inflammatory back pain in young males with morning stiffness; HLA-B27 association; may develop uveitis and IBD; bamboo spine is a late radiographic finding.

HLA-B27

Genetic marker strongly associated with seronegative spondyloarthropathies (e.g., AS, reactive arthritis, psoriatic arthritis, enteropathic arthritis).

Reactive arthritis

Seronegative arthritis following an infection (GU or GI); classic triad: conjunctivitis, urethritis, arthritis; often HLA-B27 positive.

Psoriatic arthritis

Seronegative arthritis associated with psoriasis; features include dactylitis (sausage digits) and enthesitis; pencil-in-Cup deformity is a classic radiographic finding.

CASPAR criteria

Criteria to aid predicting psoriatic arthritis in patients with psoriasis; used in diagnosis.

Enteropathic arthritis

Arthritis associated with inflammatory bowel disease (Crohn’s or UC); nondeforming/nonerosive arthralgia affecting joints; GI disease modulates treatment.

Gout

Arthritis from monosodium urate crystals; typically base of the first toe (podagra); negatively birefringent, needle-shaped crystals; treated acutely with NSAIDs, colchicine, or steroids; chronic management with allopurinol.

Pseudogout

Arthritis from calcium pyrophosphate crystals; crystals are rhomboid/prism-shaped and positively birefringent; commonly affects larger joints.

Lyme disease

Tick-borne infection (Borrelia burgdorferi); erythema migrans is early sign; doxycycline first-line; amoxicillin/cefpodoxime in kids; disseminated disease may require IV ceftriaxone.

Fibromyalgia

Chronic widespread pain with multiple tender points (11 of 18); non-destructive; treatment focuses on sleep, mood, activity; meds include amitriptyline/nortriptyline, pregabalin, duloxetine.

Dermatomyositis and polymyositis

Inflammatory myopathies; proximal muscle weakness; dermatomyositis features heliotrope rash and Gottron papules; diagnosis by biopsy; treatment with steroids and sometimes methotrexate.

Polymyalgia rheumatica (PMR)

Elderly syndrome with proximal neck/back pain and stiffness; no true weakness; often associated with temporal arteritis; high ESR/CRP; treated with NSAIDs and steroids if arteritis occurs.

Temporal arteritis (giant cell arteritis)

Large-vessel vasculitis causing temple pain, jaw claudication, potential vision loss; elevated ESR; urgent high-dose steroids with biopsy confirmation.

Scleroderma (systemic sclerosis)

Autoimmune fibrosis of skin and organs; CREST (limited) vs diffuse forms; antibodies: anticentromere (CREST), anti-Scl-70 (topoisomerase I). Features include calcinosis, Raynaud, esophageal dysmotility, sclerodactyly, telangiectasia; can cause ILD, PAH, renal crisis.

CREST syndrome

Limited form of systemic sclerosis; calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia; often associated with anticentromere antibodies.

Marfan syndrome

Autosomal dominant connective tissue disorder (FBN1); tall stature, pectus, aortic root dilation; risk of dissection; requires regular echocardiograms and often beta-blocker therapy.

Ehlers-Danlos syndrome

Inherited collagen disorder with joint hypermobility, skin hyperextensibility, easy bruising; risk of aortic dilation; brace and activity modifications; poor wound healing with implants.

Osteogenesis imperfecta

Genetic bone fragility with multiple fractures, short stature; blue sclera in many cases; treated with activity therapy and sometimes bisphosphonates.

Polyarteritis nodosa (PAN)

Medium-vessel vasculitis with skin ulcers and livedo reticularis; renal involvement common; can be associated with hepatitis B; treated with steroids; long-term management.

Granulomatosis with polyangiitis (GPA, Wegener’s)

Small-vessel vasculitis with upper/lower respiratory tract involvement and GN; often c-ANCA positive; treated with rituximab or cyclophosphamide; maintenance with MTX or azathioprine.

ANCA

Antineutrophil cytoplasmic antibodies; markers for small-vessel vasculitides (e.g., GPA, microscopic polyangiitis).

Erythema nodosum

Tender, raised nodules usually on shins; can accompany UC/Crohn’s; not a vasculitis, and tends to be transient.

Anticentromere antibodies

Autoantibodies strongly associated with CREST syndrome (limited systemic sclerosis).

Anti-Smith (anti-Sm) antibodies

Autoantibodies highly specific for systemic lupus erythematosus.

Anti-dsDNA antibodies

Autoantibodies associated with SLE; levels often correlate with disease activity.

Anti-SSA/SSB antibodies

Autoantibodies associated with Sjögren’s syndrome; may be seen in lupus as well.