What is the best way to explain scleroderma to a patient?

How to Explain Scleroderma to a Patient

Explain to your patient that scleroderma, more accurately called systemic sclerosis, is a rare autoimmune disease where their immune system mistakenly attacks their own body, causing three main problems: blood vessel damage, inflammation, and excessive scar tissue (fibrosis) that can affect both the skin and internal organs like the lungs and heart. 1

Start with the Basic Disease Concept

• Tell the patient that systemic sclerosis is characterized by a triad of problems: (1) blood vessel damage (vasculopathy), (2) inflammation and immune system dysfunction, and (3) excessive collagen buildup causing hardening and scarring of tissues 2

• Emphasize that this is a rare disease affecting approximately 30-120 people per million, and it predominantly affects women (about 80% of cases), often appearing before age 40 2, 3

• Clarify that the term "systemic sclerosis" is preferred over "scleroderma" because it better captures that this is a multisystem disease affecting not just skin but potentially many internal organs 1

Explain the Different Types They Might Have

Limited Cutaneous Type:

• Skin thickening affects only areas below the elbows and knees (hands, feet, forearms, lower legs), and may involve the face and neck 2, 1
• Often associated with what doctors call "CREST syndrome" features 3
• Generally progresses more slowly 2

Diffuse Cutaneous Type:

• Skin thickening extends above the elbows and knees to the upper arms, thighs, and trunk 2, 1
• Tends to progress more rapidly and requires closer monitoring 2

SSc Sine Scleroderma:

• A small proportion (1.5-8%) have internal organ involvement without obvious skin thickening 2

Describe What Symptoms They Should Expect

Nearly Universal Symptoms:

• Over 95% of patients experience Raynaud's phenomenon—fingers and toes turning white, blue, then red in response to cold or stress due to blood vessel spasms 2, 1
• About half will develop painful sores on fingertips called digital ulcers 2, 1

Common Internal Organ Involvement:

• Gastrointestinal tract (affects nearly 90%): Most commonly the esophagus, causing heartburn and swallowing difficulties 2, 1
• Lungs (40-75% develop interstitial lung disease, though only 15-18% have progressive disease): Scarring of lung tissue that can affect breathing 2, 1
• Heart and blood vessels: Can affect the heart muscle and blood vessels in the lungs 2
• Kidneys: Can cause sudden kidney problems (scleroderma renal crisis), though this is less common with modern treatment 2

Address Prognosis Honestly but Supportively

• Be transparent that systemic sclerosis currently has the highest mortality rate among rheumatic diseases, with the main causes of death being lung disease and heart involvement 2, 1

• However, emphasize that survival has improved significantly with modern treatments and early intervention 2, 1

• Stress that early detection and treatment of organ involvement significantly impacts prognosis and quality of life 1

Explain the Monitoring Plan

• They will need regular screening for internal organ complications even if they feel well, because early detection is crucial 2, 1

• Doctors will use various tools including:

  • Physical examination measuring skin thickness (modified Rodnan skin score) 1
  • Blood tests for specific antibodies that help predict which organs might be affected 1
  • Lung function tests and imaging 2
  • Heart monitoring 2

Discuss Treatment Approach

Reassure them that while there is no cure, effective treatments exist:

• Treatment is organ-specific—different medications target different manifestations of the disease 2

• For Raynaud's phenomenon and digital ulcers: calcium channel blockers (like nifedipine), then phosphodiesterase-5 inhibitors or IV iloprost 2

• For skin thickening and early diffuse disease: immunosuppressive medications like mycophenolate mofetil, methotrexate, or newer biologic agents like rituximab and tocilizumab 2, 1

• For lung scarring: mycophenolate mofetil is typically the first choice, with nintedanib as an option for progressive fibrotic disease 2, 1

• For rapidly progressive severe disease: autologous stem cell transplantation may be considered in carefully selected patients 2

Common Pitfalls to Avoid When Explaining

• Don't minimize the seriousness but also don't catastrophize—balance honesty with hope about available treatments 2, 1

• Don't use the term "scleroderma" alone as it refers only to skin hardening and may cause confusion about the systemic nature of their disease 1

• Don't delay explaining the need for regular monitoring—patients need to understand that feeling well doesn't mean organs aren't being affected 2, 1

• Don't forget to mention that this is NOT contagious and is not caused by anything they did wrong 4

Emphasize the Importance of Early Action

• The key message: early intervention is critical to prevent or slow progression of life-threatening complications 2, 1

• Starting treatment early in the disease course provides maximum benefit 2, 5

• Regular follow-up appointments are not optional—they are essential for detecting problems before they become severe 2, 1