Systemic sclerosis (scleroderma)

Question 1

Systemic sclerosis (scleroderma) is divided into:

Answer 1

Diffuse cutaneous systemic sclerosis
Widespread skin involvement, pulmonary fibrosis and pulmonary hypertension, myocardial fibrosis (pericarditis), renal crisis.

Limited cutaneous systemic sclerosis (CREST)
Calcinosis on fingers, Raynaud’s, esophageal dysmotility, Sclerodactyly, telangiectasia

Question 2

What is the most common cause of mortality in patients with diffuse cutaneous systemic sclerosis (dcSSc)?

Answer 2

Pulmonary disease (specifically interstitial lung disease and pulmonary arterial hypertension) is the most common cause of mortality.

Scleroderma renal crisis is a life-threatening complication, but it is not the most common cause of mortality.

Question 3

What are the 2 primary pulmonary complications seen in systemic sclerosis (scleroderma)?

Answer 3

Interstitial lung disease (ILD) — progressive fibrosis of the alveoli.

Pulmonary arterial hypertension (PAH) — intimal hyperplasia of pulmonary arteries.

Question 4

How do you screen for pulmonary disease in patients with systemic sclerosis?

Answer 4

High-resolution chest CT (HRCT) to detect interstitial lung disease (ILD).

Pulmonary function tests (PFTs) to assess for restrictive lung disease.

Right heart catheterization for suspected pulmonary arterial hypertension (PAH).

Question 5

What is the classic presentation of Raynaud’s phenomenon in systemic sclerosis?

Answer 5

Color changes: White (pallor) → Blue (cyanosis) → Red (reperfusion).

Triggered by cold or stress.

Leads to digital ulcers and autoamputation of fingertips.

Question 6

What is a key difference with Diffuse cutaneous systemic sclerosis?

Answer 6

Early organ involvement

Question 7

Renal crisis in diffuse systemic sclerosis is associated with … ?

Answer 7

MAHA

oliguria

thrombocytopenia

Question 8

What is the diagnostic measure for systemic sclerosis?

Answer 8

Clinical Picture

Serology (antibodies)

Biopsy of the capillary nail bed.

Question 9

Which autoantibodies are associated with systemic sclerosis (scleroderma)?

Answer 9

ANA (usually a non-specific screening method)

Anti-Scl-70 (anti-topoisomerase I) — associated with diffuse cutaneous systemic sclerosis and interstitial lung disease (ILD).

Anti-centromere antibodies — associated with limited cutaneous systemic sclerosis (CREST syndrome).

Anti-RNA polymerase III — associated with scleroderma renal crisis.

Question 10

What are the immunotherapies used for systemic sclerosis?

Answer 10

mycophenolate mofetil

cyclophosphamide

methotrexate

azathioprine.

Question 11

For systemic sclerosis, what is important to note regarding the treatment approach, especially for diffuse systemic sclerosis?

Answer 11

Treatments are by Organ System

Question 12

What immunpsuppressing agent is first-line for ILD in systemic sclerosis?

Answer 12

Mycophenolate mofetil is often the first-line agent for ILD due to its favorable side effect profile compared to cyclophosphamide.

Nintedanib ia specifically for treatment of interstitial lung disease (ILD) in systemic sclerosis and works by inhibiting multiple tyrosine kinases involved in fibrosis, reducing lung fibrosis progression.

Question 13

What is the preferred treatment for Interstitial Lung Disease (ILD) in systemic sclerosis?

Answer 13

Mycophenolate mofetil (preferred) or cyclophosphamide.
Nintedanib for progressive ILD.

Question 14

Why are steroids not really used in systemic sclerosis?

Answer 14

Corticosteroids should be used with caution, as they increase the risk of scleroderma renal crisis.

Question 15

What is the preferred treatment for pulmonary hypertension in systemic sclerosis?

Answer 15

Endothelin receptor antagonists: Bosentan, Ambrisentan.

Phosphodiesterase-5 inhibitors: Sildenafil, Tadalafil.

Prostacyclin analogs: Epoprostenol, Treprostinil, Iloprost.

Question 16

What modalities are used to monitor lungs in systemic sclerosis?

Answer 16

High-resolution CT (HRCT) to assess for interstitial lung disease.

Pulmonary function tests (PFTs) every 6–12 months to assess for restrictive lung disease and DLCO.

Question 17

Scleroderma Renal Crisis (SRC) is managed how?

Answer 17

Captopril or Lisinopril are first-line agents, regardless of creatinine levels.

Question 18

How is skin fibrosis managed in systemic sclerosis?

Answer 18

Methotrexate for early skin disease.

Mycophenolate mofetil for progressive skin fibrosis.

Physical therapy to improve range of motion and prevent joint contractures.

Topical moisturizers to reduce dryness and cracking.

Question 19

How are digital ulcers (due to Raynaud’s) managed in systemic sclerosis?

Answer 19

Calcium channel blockers: Nifedipine or Amlodipine (first-line).

Phosphodiesterase-5 inhibitors: Sildenafil for more severe Raynaud’s.

Prostacyclin analogs: Iloprost infusions for nonhealing digital ulcers.

Endothelin receptor antagonists: Bosentan (used to reduce recurrent ulcers).

Question 20

What is given to manage the cardiac issues in systemic sclerosis?

Answer 20

Anti-arrhythmic medications (eg, beta-blockers, amiodarone, or implantable defibrillators if indicated).

ACE inhibitors and ARB therapy to control blood pressure.

Diuretics for heart failure (use cautiously due to the risk of scleroderma renal crisis).

Question 21

How is the heart monitored in systemic sclerosis?

Answer 21

Perform echocardiograms annually to assess for right ventricular hypertrophy, pulmonary hypertension, or pericardial effusion.

Question 22

Gastroesophageal Reflux Disease (GERD) and Dysphagia in systemic sclerosis is managed in what way?

Answer 22

Proton pump inhibitors (PPIs): Omeprazole, Pantoprazole (daily or twice daily).

Lifestyle modifications: Elevate head of bed, avoid late-night eating.

Question 23

Other than GERD, what others GI complications can occur secondary to systemic sclerosis?

Answer 23

Small Bowel Bacterial Overgrowth (SIBO)
Treatment:
Rifaximin or metronidazole (antibiotics for bacterial overgrowth).

Constipation and Motility Issues
Treatment:
Prokinetic agents
(Metoclopramide or Domperidone to improve motility).

Question 24

Musculoskeletal Involvement secondary to systemic sclerosis is managed in what way?

Answer 24

NSAIDs for pain relief.

Methotrexate or mycophenolate mofetil for inflammatory myopathy.

Physical therapy to improve range of motion and avoid contractures.