- Characterized by thickened, sclerotic skin lesions but encompasses a spectrum of disorders!
- Limited systemic scleroderma – skin manifestations limited to face, hands, feet
- Can have raynauds for years
- 10-15% of patients have late incidence of pulmonary HTN, ILD, or CREST (skin calcification, raynauds, esophageal disease, scleroderma, telangiectasias)
- Diffuse systemic scleroderma – more diffuse skin manifestations
- Early and significant renal, ILD, GI, myocardial disease
Side note: What is MCTD?
- Overlap syndrome including features of SLE, systemic sclerosis, and polymyositis
- High titers of anti-RNP (ribonucleoprotein) Ab
Side note: What rheumatologic diseases are associated with pulmonary HTN?
- Remember that pulmonary HTN a/w connective tissue disease is group 1 PAH. Systemic sclerosis is the most common CTD a/w pulmonary HTN, but RA and SLE are also associated
- Female patients with prominent Raynaud are at higher risk
Serologies associated with scleroderma: variable prevalence depending on form of scleroderma!
- Anti-Scl 70
- Anticentromere Ab
- Anti-RNA polymerase Ab
- Pulm: ILD (75%), PAH (10-40%), lung cancer (5x higher risk than age-matched controls). PAH is usually a late complication and can lead to right heart failure. They can occur together or independently.
- GI (90%): esophageal dysmotility (GERD-like symptoms)
- Renal: scleroderma renal crisis (15%) – characterized by AKI and HTN (acute onset), high mortality, treat with ACEi!
- MSK: inflammatory arthritis is uncommon!
- Vascular: includes digital ischemic ulcers, PAH, SRC, MI, gastric and vascular ectasia
- Raynauds is classically thought to be from reversible vasospasm, but in scleroderma, progressive structural damage to the small blood vessels can lead to permanently impaired flow, leading to ischemic ulceration or infarction!
- Avoid steroids as this can precipitate SRC!
- Biologics: used with only modest benefit to slow progression/severity of complications (start early! Once a patient is end-stage, these are less helpful)
- Methotrexate, cellcept, cyclophosphamide
- IVIG or ritux as adjuvant therapy for refractory disease
- Otherwise, treatment is organ based:
- ILD: biologics above
- Pulmonary HTN: endothelin receptor antagonists (eg bosentan), phosphodiesterase inhibitors (eg sildenafil), newer tx like selexipag
- GI: BID PPI
- SRC: ACEi!
- Raynauds: avoid cold exposure, quit tobacco; CCB; PDE inhibitor
- If critical ischemia or digital ulceration: IV prostacycline analogues (eg epoprostenol) are first line!; surgery if severe