Systemic Sclerosis Overview

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is the main aim of management for diseases with fibrotic changes?

To eradicate all symptoms immediately

To slow down the effects of the disease on target organs (correct)

To prevent any organ damage

To completely reverse the fibrosis

Which of the following treatments is indicated for Raynaud’s phenomenon?

High doses of corticosteroids

Use of thermal insulating gloves/socks (correct)

Vitamin D supplementation

Surgical intervention

What class of medication is primarily used for managing hypertension in patients with renal impairment?

ACE inhibitors (correct)

Calcium channel blockers

Beta blockers

Diuretics

Which treatment option is appropriate for patients experiencing gastrointestinal complications due to bacterial overgrowth?

Rotating courses of antibiotics Signup and view all the answers

What is often the first-line treatment for progressive pulmonary hypertension?

Bosentan Signup and view all the answers

What is the prevalence of systemic sclerosis in the general population?

10–20 per 100,000 Signup and view all the answers

Which of the following is NOT a characteristic feature of systemic sclerosis?

Erythema nodosum Signup and view all the answers

What age group is typically affected by systemic sclerosis?

Adults in their fourth and fifth decades Signup and view all the answers

In terms of disease classification, which description applies to limited cutaneous systemic sclerosis?

Skin involvement restricted to distal sites only Signup and view all the answers

Which factor is associated with a poor prognosis in diffuse cutaneous systemic sclerosis?

High ESR Signup and view all the answers

What is primarily responsible for the fibrotic process in systemic sclerosis?

Abnormal fibroblast activation Signup and view all the answers

What triggers for an SScl-like disease have been identified?

Silica dust exposure Signup and view all the answers

What initial skin change is observed in systemic sclerosis?

Non-pitting edema Signup and view all the answers

What is a common gastrointestinal symptom associated with smooth muscle atrophy in scleroderma?

Dysphagia Signup and view all the answers

How does pulmonary hypertension typically present in long-standing cases of scleroderma?

Insidious exertional dyspnoea Signup and view all the answers

In which type of scleroderma is hypertensive renal crisis more likely to occur?

dcSScl Signup and view all the answers

What is a common feature related to small blood vessel involvement in scleroderma?

Localized tissue ischaemia Signup and view all the answers

Which antibodies are commonly associated with diffuse scleroderma?

Scl70 antibodies Signup and view all the answers

What skin manifestation is often observed in patients with scleroderma initially?

Furrowing of the lips Signup and view all the answers

Which diagnostic tool is recommended if interstitial lung disease is suspected in a patient with scleroderma?

High-resolution lung CT Signup and view all the answers

Which of the following gastrointestinal symptoms can indicate 'watermelon' stomach?

Occult upper gastrointestinal bleeding Signup and view all the answers

Study Notes

Systemic Sclerosis (SSc)

Autoimmune disorder of connective tissue
Fibrosis affects skin, internal organs, and vasculature
Characterized by Raynaud's phenomenon, digital ischemia, sclerodactyly, and involvement of cardiac, lung, gut, and renal systems
Peak onset in the fourth and fifth decades
Prevalence: 10-20 per 100,000, with a 4:1 female-to-male ratio

Types of Systemic Sclerosis

Diffuse cutaneous systemic sclerosis (dcSScl): 30% of cases. Skin involvement extends beyond sites distal to the elbow and knee (including the face).
Limited cutaneous systemic sclerosis (lcSScl): 70% of cases. Skin involvement is restricted to sites distal to the elbow or knee (except the face).

Prognosis in dcSScl

Poor prognosis associated with older age, diffuse skin disease, proteinuria, high ESR, low carbon monoxide gas transfer factor (TLCO), and pulmonary hypertension.

Pathophysiology

Cause not fully understood; genetic component and associations with HLA alleles
Isolated cases triggered by exposure to silica dust, vinyl chloride, epoxy resins, or trichloroethylene
Immunological dysfunction (T lymphocytes infiltrate the skin, abnormal fibroblast activation, leading to increased type I collagen production)
Arterial and arteriolar narrowing due to intimal proliferation and vessel wall inflammation, endothelial injury, vasoconstrictors release, platelet activation, resulting in further ischemia which exacerbates the fibrotic process.

Clinical Features

Skin: Initial non-pitting edema of fingers and flexor tendon sheaths, followed by shiny, taut skin, disappearance of distal skin creases, capillary loss, and thinning of the face and neck (sometimes with radial furrowing)
Raynaud's Phenomenon: Universal feature, often precedes other symptoms. Involvement of small blood vessels in extremities, leading to critical tissue ischemia, distal skin infarction, and necrosis.
Musculoskeletal: Arthralgia, flexor tenosynovitis are common. Restricted hand function, due to skin involvement rather than joint disease; erosive arthropathy is uncommon.
Cardiovascular: Cardiac involvement, accelerated hypertension, scleroderma renal crisis
Gastrointestinal: Smooth muscle atrophy and fibrosis in lower two-thirds of esophagus leading to reflux with erosive esophagitis; dysphagia, odynophagia, recurrent occult upper gastrointestinal bleeding (watermelon stomach), small intestine involvement leading to malabsorption due to bacterial overgrowth, and intermittent bloating, pain or constipation.
Pulmonary: Pulmonary hypertension, interstitial lung disease. Exertional dyspnea and signs of right heart failure are common
Renal: Hypertensive renal crisis, one of the main causes of death.
Telangiectases
Other: Skin thickening, Calcinosis (occurs mainly over pressure points)

Skin Manifestations (images)

Images show different skin presentations (e.g., discoloration, thickening)

Investigations

Routine haematology, renal, liver, and bone function tests alongside urinalysis
Antinuclear antibodies (ANA) are positive in about 70% of cases; Antibodies to topoisomerase 1 (Scl70) in about 30% of dcSScl patients and anticentromere antibodies in about 60% of lcSScl patients
Chest X-ray, echocardiography, Pulmonary Function Tests (PFTs), high-resolution lung CT (if interstitial lung disease suspected)
Right heart catheter measurements, barium swallow (for esophageal involvement), hydrogen breath test (for bacterial overgrowth)

Management

No treatment reverses fibrosis; focus is on slowing disease progression
Raynaud's Phenomena & Digital Ulcers: Avoidance of cold exposure, thermal insulation, calcium channel blockers, losartan, fluoxetine, sildenafil
Gastrointestinal Complications: Proton pump inhibitors, anti-reflux agents, courses of antibiotics for bacterial overgrowth, metoclopramide or domperidone for dysmotility/pseudo-obstruction
Hypertension: Aggressive ACE inhibitor treatment, even if renal impairment is present
Joint Involvement: Analgesics, NSAIDs, low-dose methotrexate
Pulmonary Hypertension: Bosentan, transplant may be considered in severe or progressive cases.
Interstitial Lung Disease: Glucocorticoids, cyclophosphamide (pulse intravenous)

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

Description

Explore the complexities of Systemic Sclerosis, an autoimmune disorder that leads to fibrosis affecting various organs. This quiz covers its types, prognosis, and intriguing pathophysiology. Test your knowledge on key features like Raynaud's phenomenon and skin involvement.