Systemic Sclerosis with DPLD (Interstitial Lung Disease) Quiz
Internal Medicine Quiz
History
- Cough
- Dyspnoea
- Arthralgia
- Intermittent constipation
- Rash for 3 months
Examination
- Thinning of lips
- Microstomia
- Telangiectasia
- Shiny, taut skin
Investigations
- Chest X-ray PA View: Multiple bilateral reticulonodular shadows
MCQ Questions
Q1. Give 4 differentials for the chest X-ray findings:
- A. Tuberculosis
- B. Pulmonary eosinophilia
- C. Fungal infection
- D. Lymphangitic carcinomatosis
Q2. What is the most likely diagnosis?
- A. Systemic sclerosis with DPLD
- B. Rheumatoid arthritis with ILD
- C. Sarcoidosis
- D. SLE with pneumonitis
Q3. Which physical findings support the diagnosis? (4 expected)
Q4. Which investigations help confirm the diagnosis? (4 expected)
Q5. What are the management options? (4 expected)
Brief Case Summary
A 50-year-old woman presented with cough, dyspnoea, arthralgia, intermittent constipation and skin changes. Examination revealed microstomia, thinning of lips, telangiectasia and shiny taut skin. Chest X-ray demonstrated bilateral reticulonodular shadows.
Answer
Click to Reveal Answer
Systemic Sclerosis (Scleroderma) with Diffuse Parenchymal Lung Disease (DPLD/ILD)
Answer Explanation
The combination of skin tightening, microstomia, telangiectasia, gastrointestinal involvement and interstitial lung disease strongly suggests systemic sclerosis. Lung involvement is a major cause of morbidity and mortality in these patients.
Why Not Others?
- Rheumatoid arthritis with ILD: Typical deforming arthritis absent.
- Sarcoidosis: Skin findings and sclerodactyly absent.
- SLE with pneumonitis: Characteristic lupus manifestations absent.
- Tuberculosis: Does not explain systemic scleroderma features.
5 Brief Case Scenarios
- Woman with Raynaud phenomenon and progressive skin tightening.
- Patient with digital ulcers and exertional dyspnoea.
- Middle-aged female with reflux symptoms and ILD.
- Patient with telangiectasia and restrictive lung disease.
- Woman with sclerodactyly and pulmonary fibrosis.
Pathophysiology Simplified
Autoimmune-mediated endothelial injury causes excessive collagen deposition, fibrosis and vascular dysfunction affecting skin, lungs, gastrointestinal tract and other organs.
Physical Examination Pearls
- Microstomia is highly characteristic.
- Shiny taut skin suggests fibrosis.
- Telangiectasia supports connective tissue disease.
- Digital ulcers may occur.
- Bibasal crackles suggest ILD.
Investigation Findings
- HRCT: Ground-glass opacities and fibrosis.
- PFT: Restrictive pattern with reduced DLCO.
- ANA positive.
- Anti-Scl-70 antibody positive.
- Echocardiography may detect pulmonary hypertension.
Complications
- Interstitial lung disease
- Pulmonary hypertension
- Renal crisis
- Heart failure
- Digital ischemia
- Severe GI dysmotility
Management
- Mycophenolate mofetil
- Cyclophosphamide in selected cases
- Nintedanib for progressive fibrotic ILD
- Pulmonary rehabilitation
- Oxygen therapy if indicated
- Management of reflux and GI symptoms
- Regular monitoring for pulmonary hypertension
Differential Diagnosis
- Rheumatoid arthritis with ILD
- Sarcoidosis
- SLE pneumonitis
- Idiopathic pulmonary fibrosis
- Mixed connective tissue disease
- Chronic hypersensitivity pneumonitis
Clinical Pitfalls
- Missing early ILD despite minimal symptoms.
- Relying solely on chest X-ray.
- Ignoring pulmonary hypertension screening.
- Underestimating GI involvement.
- Delayed rheumatology referral.
Clinical Pearls
- HRCT is more sensitive than chest X-ray.
- Anti-Scl-70 correlates with ILD risk.
- Pulmonary disease is a major mortality cause.
- Raynaud phenomenon often precedes diagnosis.
- Early treatment improves outcomes.
Monitoring & Follow-Up
- Pulmonary function tests every 6–12 months.
- Serial HRCT when indicated.
- Blood pressure monitoring.
- Echocardiography screening.
- Assessment of oxygen saturation.
- Monitor treatment toxicity.
Prognosis
Prognosis depends largely on lung involvement and pulmonary hypertension. Early diagnosis and treatment significantly improve quality of life and long-term outcomes.
Frequently Asked Questions (FAQ)
1. What is systemic sclerosis?
An autoimmune connective tissue disease causing fibrosis and vascular abnormalities.
2. What is DPLD?
Diffuse parenchymal lung disease causing inflammation and fibrosis of lung tissue.
3. What is microstomia?
Abnormally small mouth opening due to skin tightening.
4. What causes dyspnoea in systemic sclerosis?
Usually interstitial lung disease or pulmonary hypertension.
5. What antibody is commonly associated?
Anti-Scl-70 antibody.
6. What imaging is best for ILD?
High-resolution CT chest.
7. What is Raynaud phenomenon?
Vasospasm causing finger color changes in cold exposure.
8. Why does constipation occur?
GI smooth muscle fibrosis causes dysmotility.
9. Is pulmonary hypertension common?
Yes, especially in longstanding disease.
10. Can kidneys be affected?
Yes, renal crisis is a serious complication.
11. What is the role of PFT?
To assess severity and progression of lung disease.
12. Is systemic sclerosis curable?
No, but symptoms and progression can be controlled.
13. Which drug is commonly used?
Mycophenolate mofetil.
14. What predicts poor prognosis?
Severe ILD and pulmonary hypertension.
15. Why is early diagnosis important?
To prevent irreversible organ damage.
References
- Harrison's Principles of Internal Medicine.
- Davidson's Principles and Practice of Medicine.
- Oxford Handbook of Rheumatology.
- EULAR Recommendations for Systemic Sclerosis.
- American Thoracic Society ILD Guidelines.