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Systemic Sclerosis (SSc)

Contributors: Joanne Valeriano-Marcet, MD and  Helen Bateman, MD

CASE 1:

A 35 year old female presents with a 2 year history of Raynaud's phenomenon. She reports gastroesophageal reflux for a similar duration of time. She also has noted that her skin is diffusely pruritic for the past year.

Physical examination reveals a P 90 BP 160/90
HEENT is remarkable for furrowing around the mouth and decreased oral aperture. Cardiac exam is normal.  Pulmonary exam is normal. Skin reveals sclerodactyly with digital pitting scars. There is mild diffuse skin tightening including the proximal upper and lower extremities, abdomen and chest.

What physical examination findings are concerning in this patient and why?

  • Patients with diffuse cutaneous SSc with rapidly progressive skin disease are at risk for hypertensive renal crisis and for interstitial lung disease.
  • The heralding sign for scleroderma renal involvement is elevation of the blood pressure. This may be a mild increase to 120/80 in a patient with a usual much lower blood pressure (such as 100/70).
  • These patients need aggressive treatment with angiotensin converting enzyme (ACE) inhibitors at the first sign of renal involvement.
  • Patients need home BP monitoring.
  • Although crackles are not heard on lung examination, this patient has early diffuse skin involvement and should undergo screening for interstitial lung disease. Testing should include pulmonary function tests for spirometry, lung volumes and diffusion capacity.

CASE 2:

A 55 year old female with a 15 year history of Raynaud's phenomenon presents with increasing shortness of breath. She has noticed tightening of the skin on her finger tips with intermittent digital ulcerations. She additionally reports hard bumps over the elbows and red spots on her face and neck. Physical exam confirms the presence of sclerodactyly, digital pitting scars, calcinosis over the elbows, and telangiectasias over the face and chest. Cardiac exam reveals a regular rate and rhythm and a loud P2 component of S2.

What is the diagnosis and what is a possible etiology for her shortness of breath?  How would you evaluate it?

  • This patient has limited cutaneous systemic sclerosis or CREST syndrome (Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasia).

    Patients with limited cutaneous SSc (CREST syndrome) are at increased risk for developing pulmonary hypertension.

  • These patients should undergo yearly screening with PFTs, including DLCO and echocardiogram.
  • Pulmonary hypertension is most commonly vascular in origin (a vasculopathy, and not of an inflammatory etiology), but may alternatively be related to the presence of interstitial lung disease, diastolic dysfunction or valvular heart disease.

Patient Care

  1. Identify the classification criteria for SSc, and the specific clinical manifestations of limited and diffuse cutaneous disease through a detailed history and physical examination
  2. Implement appropriate clinical and laboratory screening for diagnosis and defining organ involvement including ANA screening (anti-topoisomerase 1 (Scl-70) and anti-centromere antibodies) upper endoscopy, barium esophagram, PFTs, echocardiogram, 6 minute walk test, and high resolution chest CT scan 
  3. Determine the need for monitoring with upper endoscopy, PFTs, echocardiogram, 6 minute walk test, and high resolution chest CT scan
  4. Recognize the importance of the finding of digital pitting and the role of nailfold capillary microscopy in the evaluation of a patient with Raynaud's phenomenon
  5. Identify the presenting features and clinical setting of scleroderma renal crisis
  6. Describe the appropriate pharmacologic and non pharmacologic management of Raynaud's phenomenon and digital ulcers, GI involvement, interstitial lung disease, pulmonary hypertension, and scleroderma renal crisis
  7. Explain the risks and benefits of medications used to treat the clinical manifestations of scleroderma: Proton pump inhibitors, angiotensin converting enzyme (ACE) inhibitors, calcium channel blockers, endothelin receptor blockers, prostaglandin analogues, phosphodiesterase inhibitors, and immune modulators (mycophenolate mofetil, cyclophosphamide, methotrexate)
  8. Identify web based patient resources

Medical Knowledge

  1. Identify and differentiate systemic from localized cutaneous scleroderma including morphea and linear scleroderma
  2. Describe the differentiating feature of extent of skin involvement between limited and diffuse cutaneous systemic sclerosis
  3. Discuss the patterns of visceral involvement most commonly associated with diffuse versus limited cutaneous systemic sclerosis
  4. Discuss the differential diagnosis of SSc including the scleroderma mimics such as eosinophilic fasciitis, scleredema of Buschke, scleromyxedema, and nephrogenic systemic fibrosis
  5. Recognize cutaneous complications of SSc including skin induration, acrosclerosis (sclerodactyly), acro-osteolysis (terminal digital tuft resorption), diffuse skin tightening, telangiectasias, and calcinosis  
  6. Recognize the vascular complications of SSc including Raynaud's phenomenon, pulmonary hypertension and renal involvement
  7. List the secondary causes of Raynaud's phenomenon
  8. Identify the importance of the presence interstitial lung disease (ILD) in SSc and how it may be treated.
  9. Recognize the GI manifestations of SSc including esophageal dysmotility, intestinal pseudo-obstruction, colonic wide- mouthed diverticulae, and watermelon stomach (gastric antral vascular ectasia, GAVE)
  10. Describe the underlying pathology and pathophysiology of scleroderma renal crisis
  11. Describe the underlying pathology and pathophysiology of pulmonary HTN

Interpersonal Communication

  1. Discuss the need for close monitoring of disease activity particularly skin thickening, blood pressure and dyspnea.
  2. Summarize the information to be provided to a specialist to whom you might refer a patient with suspected scleroderma.
  3. Explain the prognosis and expected visceral involvement for limited vs diffuse cutaneous disease
  4. Utilize a patient-centered approach in developing a treatment and follow-up plan.  
  5. Advise on vocational and non vocational activities

Professionalism

  1. Recognize the importance of patient privacy, informed consent and equal care
  2. Recognize the importance of patient privacy balanced with the need to involve family    and support groups to improve functioning
  3. Allow time for appropriate questions and concerns with emphasis on chronicity of the disease

Problem-based learning

  1. Set learning goals in diagnosis and management of scleroderma
  2. Integrate and apply information from the history and physical, laboratory and diagnostic testing to make informed decisions about patient care
  3. Learn to incorporate formative evaluation and feedback into practice and management of these complex patients
  4. Develop a willingness to learn from errors and use errors in a constructive way to learn and to improve the systems for patient care

  5. Utilize web-based resources to enhance learning about scleroderma

Systems Based Practice

  1. Effectively engage all medical providers and the health care system to manage this condition
  2. Learn to incorporate considerations of cost awareness and risk benefit analysis in patient care
  3. Demonstrate awareness of the impact of diagnostic and pharmacologic recommendations on the health care system, insurance companies and patient personal expenditures
  4. Identify barriers to the delivery of optimal patient care for patients with scleroderma and offer improved ideas for delivering care

Keywords: Scleroderma, Systemic Sclerosis, CREST, Raynaud 's phenomenon, Scleroderma renal crisis, Pulmonary hypertension

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