Rheumatology

Systemic Lupus Erymatosus (15-44yo F)

• Chronic autoimmune disease affecting various organs

  º antibodies and low completement

• Dx: ANA; anti-dsDNA, anti-Sm

• Challenges: heterogenous presentation, resembles other diseases

Constitutional: fever w/o high WBC; weight changes

Organ specific:

• Arthritis/althralgia (non-deforming, migratory)

• Skin and mucous changes: malar rash, photosensitivity, discoid lesions, alopecia

• Cardiac: pericarditis, myocarditis, Libman-sacks endocarditis, CAD

• Renal: lupus nephritis (proteinuria, hematuria, hypertension)

• Pulmonary: pleuritis, interstitial lung disease, pulmonary hypertension

• Neurologic: seizures, stroke, cognitive impairment, psych problems

• Hematlotgic: anemia, leukopenia, thrombocytopeni,a lymphadenopathy

Cells undergo apoptosis - apoptotic cells are not cleared effectively by macrophages and monocytes (low complement proteins)- nuclear material is exposed to immune system - sensitization - antibodies attacking cell components (ANA, Anti-dsDNA, anti-sm, anti-Ro/SSA, anti-La/SSB)

Deficiency in complement proteins: low C1 C2 C3 C4

• Cx symptoms: constitutional, mucocutaneous, organ-specific

• Labs

  • ANA (almost all cases)

  • Specific antibodies: anti-dsDNA, anti-Sm, anti-Ro/SSA, anti-La/SSB

  • Low complement: C3 C4

  • Urinalysis: proteinuria, hematuria, casts in lupus nephritis

• Classification criteria:

  • 2019 EULAR/ACR: ANA + clinical and immunologic criteria

  • 2012 SLICC: clinical, immunulogic components or biopsy-proven nephritis criteria

Reduce symptoms + prevent organ damage + minimine Tx SE

Hydroxychloriquine + methotraxate (+ corticosteroids for flair ups)

General measures: SPF creams, immunization, cardiovascular and osteoporosis screening, lifestyle changes and avoidance of triggers

Excessive collagen deposition:

• skin thickening

• internal organ involvement

• vascular dysfunction + fibrosis

IL-13 and TGF-beta

Diffuse cutaneous SSc

• Skin + organs

Limited cutaneous SSc

• skin (hands, feet, face) + raynauds

• maybe pulmonary arterial hypertension

SSc Sine Scleroderma

• no skin changes, only organs

Overlap syndromes

• SSc + other autoimmune conditions

Interstitial and perivascular collagen seposition leading to fibrosis and slcerois

Microvascular damage can lead to ischemia and skin ulcerations

• Skin: methotraxate

• Kidney: ACE-i

• Pulmonary fibrosis: cyclophosphamide

• GIT: PPI and motility agents

• Raynauds: CCB, PDE-5-i

• arthritis: hydroxychloriquine

Autoimmune diseases associated with proximal muscle weakness

• polymyositis

• dermatomyositis

proximal muscle weakness

dysphagia, etc

grottons papules (in DM)

Cx presentation

EMG

antibodies and labs:

• High AST ALT LDH and creatine kinase

• Anti-Jo1 and Anti-Mi2

supportive therapy

glucocorticoids + immunosuppressants

prednisolone + methotrexate

Sicca + arthritis