Updated: 1/16/2021

Scleroderma

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Snapshot
  • A 45-year-old woman presents to her physician with swollen fingers, joint pains, and a dry cough. She reports that this started a year ago and has not improved. She has a past medical history of vitiligo and primary biliary cholangitis. Physical exam reveals tightened, shiny skin with induration over her face and arms, sclerodactyly, and dry rales in the lungs. There are also telangiectasias on her left cheek. Her physician sends her for additional pulmonary imaging and autoimmune workup.
Introduction
  • Clinical definition
    • an autoimmune skin disease characterized by progressive hardening and induration of the skin and/or other structures, such as the subcutaneous tissues, muscles, and  internal organs
      • triad
        • autoimmunity
        • noninflammatory vasculopathy
        • collagen deposition with fibrosis
    • classification
      • limited cutaneous scleroderma
        • usually affecting only the skin
        • subtype is CREST syndrome
          • Calcinosis cutis
          • anti-Centromere antibody 
          • Raynaud 
            • ↓ blood flow to skin from either cold temperatures or stress, which causes vasospasms
            • colors of affected area, commonly the digits, change from white (ischemia) to blue (hypoxia) to red (re-perfusion)
        • Esophageal dysmotility
        • Sclerodactyly
        • Telangiectasia
      • systemic or diffuse scleroderma
        • affecting internal organs, including renal, lung, and cardiac
  • Epidemiology
    • demographics
      • female > male
      • African Americans > Caucasian
      • 30-50 years of age but can affect all ages
    • risk factors
      • exposure to potential triggers
  • Etiology
    • multifactorial and includs genetic predisposition and environmental triggers
      • possible triggers include silica, solvent (such as benzene), and radiation exposure
  • Pathogenesis
    • sclerosis
      • excessive deposition of collagen and other elements of the extracellular matrix in skin and internal organs 
      • fibroproliferation of microvasculature, causing a noninflammatory vasculopathy
      • chronic inflammation with alterations of humoral and cellular immunity
        • increased release of inflammatory cells help initiate and propagate the fibrotic process
    • esophageal dysmotility
      • atrophy of smooth muscles in esophagus can cause ↓ lower esophageal sphincter pressure and dysmotility, leading to increased dysphagia and acid reflux
  • Associated conditions
    • other autoimmune diseases
  • Prognosis
    • systemic scleroderma is rapidly progressive
      • involvement of pulmonary, renal, or cardiac systems indicate a more severe prognosis
      • one of the highest mortalities among systemic autoimmune diseases
    • limited scleroderma is more benign
Presentation
  • Symptoms
    • skin
      • diffuse pruritus
      • Raynaud phenomenon  
    • gastrointestinal
      • acid reflux 
    • respiratory
      • progressive dyspnea
      • dry cough due to restrictive lung disease 
    • musculoskeletal
      • mylagias
      • arthralgias
    • cardiac
      • palpitations or irregular heart beats
  • Physical exam
    • skin
      • skin tightness, induration, and hardening
        • affecting the fingers (sclerodactyly)
        • shiny with loss of “wrinkles” from skin folds
      • limited mobility due to skin tightening
      • digital ulceration
      • edema not responsive to diuresis
      • hyper- and hypopigmentation  
      • telangiectasias on skin and mucosa
    • respiratory
      • dry rales indicative of pulmonary involvement
    • cardiac
      • symptoms of cor pulmonale if there is pulmonary involvement
        • jugular venous distention
        • edema
        • hepatomegaly
    • renal
      • hypertension
Imaging
  • Computerized tomography (CT) scan
    • indications
      • to evaluate pulmonary involvement
    • view
      • chest
    • findings
      • ground-glass appearance may indicate early lung fibrosis
      • honeycombing and bronchiolectasis indicate developed interstitial fibrosis
Evaluation
  • Labs 
    • anti-Scl-70 (anti-DNA topoisomerase I) 
      • associated with systemic scleroderma
      • in ~ 30% of patients
    • anti-centromere autoantibody
      • associated with limited scleroderma (CREST syndrome)
      • in ~ 50% of patients
    • antinuclear antibodies
      • in ~ 90-95% of affected patients
      • speckled or centromere pattern
      • nucleolar pattern is specific for systemic sclerosis
    • ↑ inflammatory markers
      • erythrocyte sedimentation rate
      • C-reactive protein
    • serum creatinine
      • to monitor for renal involvement
    • ↑ CXCL4
      • may indicate pulmonary fibrosis
    • ↑ N-terminal probrain natriuretic peptide
      • may indicate early pulmonary hypertension
  • Electrodiagnostics
    • routine electrocardiogram to assess for cardiac involvement
  • Manometry
    • aperistalsis in distal esophagus and decreased lower esophageal sphincter tone 
  • Pulmonary function test
    • to detect early signs of pulmonary fibrosis
  • Making the diagnosis
    • based on clinical presentation and laboratory studies
Differential
  • Nephrogenic systemic fibrosis
  • Eosinophilic fasciitis
Treatment
  • Management approach
    • largely based on symptomatic relief
  • Medical
    • immunosuppressive therapies
      • indication
        • to prevent progression of sclerosis, especially if pulmonary system is involved
      • drugs
        • methotrexate
        • mycophenolate mofetil
        • cyclophosphamide
          • reserved for when disease is refractory to either methotrexate of mycophenolate mofetil
    • angiotensin-converting enzyme (ACE) inhibitor
      • indication
        • renal involvement of systemic sclerosis
          • captopril is drug of choice in scleroderma renal crisis 
    • anti-histamines
      • indication
        • pruritus
    • calcium-channel blockers
      • indication
        • Raynaud phenomenon
    • ambrisentan (endothelin receptor antagonist) and tadalafil (phosphodiesterase type 5 inhibitor) combination therapy
      • indication
        • pulmonary hypertension
Complications
  • Digital infarct
  • Pulmonary hypertension
  • Pulmonary fibrosis
  • Renal failure

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(M3.RH.16.14) A 49-year-old female patient was sent from her primary care physician to the emergency department (ED) for the management of marked hypertension, and acute renal failure. In the ED, she claims that she has fatigue, stiffening in the joints, muscle pain, pain in her fingertips, and paleness in her fingers when she is in a cold environment. She has been having these symptoms for some time. She has noticed that the volume of urine she usually produces is significantly decreased. Vitals are remarkable for a blood pressure of 170/105 mmHg. Physical examination is notable for taut, thickened skin in the face, hands, and fingers (Figure A). Her creatinine is 4.2 mg/dL, from a baseline of 1.2 mg/dL. Which of the following is a property of the medication that will most likely improve survival in this patient’s current condition?

QID: 102593
FIGURES:
1

Can decrease mortality in heart failure

75%

(6/8)

2

Decreases bradykinin levels

12%

(1/8)

3

Decreases circulating renin levels

0%

(0/8)

4

Blocker of dihydropyridine calcium channels

0%

(0/8)

5

Only decreases preload

0%

(0/8)

M 11 D

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(M2.RH.14.92) A 43-year-old woman presents with complaints of retrosternal burning associated with eating. It has persisted for the past several years but has been getting worse. Her past medical history is unknown and this is her first time seeing a doctor. She states she is otherwise healthy and review of systems is notable for episodic hand pain that is worse in the winter as well as a chronic and severe cough with dyspnea which she attributes to her smoking. Her temperature is 97.7°F (36.5°C), blood pressure is 174/104 mmHg, pulse is 80/min, respirations are 22/min, and oxygen saturation is 92% on room air. Physical exam is notable for a young appearing woman with coarse breath sounds. Laboratory studies and urinalysis are ordered and currently pending. Which of the following is the pathophysiology of this patient's chief complaint?

QID: 104634
FIGURES:
1

Decreased lower esophageal tone

17%

(6/35)

2

Esophageal fibrosis

66%

(23/35)

3

Increased lower esophageal tone

3%

(1/35)

4

Spastic cricopharyngeal muscle

6%

(2/35)

5

Uncoordinated esophageal peristalsis

6%

(2/35)

M 6 E

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Evidence (3)
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