A 54 yo F with HTN and GERD presents with puffy digits, hand tightening, and new shortness of breath.

Questions to Ask

  • Do puffy digits look like skin tightening (loss of wrinkles) or look like arthritis (localized swelling at joints)? 
  • Is the skin tightening proximal to the wrist? Is there truncal involvement (look for tightening at upper chest – can have “salt pepper” appearance of skin)?
  • Is there Raynaud’s?
  • Any new cough? Fevers? Lower extremity swelling? Choking episodes? 

Physical Exam

  • Pt with puffy digits with loss of wrinkles and no swelling localized over the joints
  • Also some tightening at the upper chest and difficulty opening mouth all the way
  • ++Raynauds
  • Slight dry cough with some worsening of longstanding GERD
  • No fevers
  • Trace new LE edema, symmetrical bilaterally

Diagnostic Workup

Initial Labs, Imaging & Procedures
  • Recommended labs:
    • CBC with CMC, ESR, CRP
    • ANA, C3,C4
    • Urinalysis
  • Recommended imaging/procedures:
    • P/Lateral CXR → High resolution CT chest
    • PFTs
    • TTE
    • Swallow study
Differential Diagnosis
Further Workup
  • If ANA is positive, recommend:
    • SCL70
    • Centromere antibody
    • ENA panel (Smith, dsdna, etc.).
  • If ANA negative, referral to dermatology for biopsy of skin to further elucidate if different diagnosis 
  • CXR → regardless of remarkable or not, recommend CT chest ILD protocol (high res, no contrast)
  • PFTs may clue in re: pHTN, ILD
  • TTE recommended

Consults/Referrals

  • Dermatology
  • GI
  • Pulmonology +/- Cardiology

Treatment

  • Caution AGAINST start of systemic steroids – they do not help with the skin tightening. 
  • Recommend CCB for Raynaud’s therapy if no contraindications
  • MMF can be considered after confirming SSc diagnosis