Autoimmune Connective Tissue Disease

Mixed Connective Tissue Disease

SSc / Scleroderma — A chronic fibrotic autoimmune disease of the skin and internal organs

Overview

What is Systemic Sclerosis?

Systemic Sclerosis (SSc), commonly known as Scleroderma, is a rare, chronic, multisystem autoimmune connective tissue disease characterised by three defining pathological processes: immune dysregulation and autoantibody production, widespread vasculopathy (especially Raynaud's phenomenon), and progressive fibrosis of the skin and visceral organs. The hallmark is thickening and hardening of the skin due to excessive collagen deposition by activated fibroblasts. SSc is classified into two major subtypes — diffuse and limited — based on the extent of skin involvement, which guides prognosis and risk of internal organ complications. It carries the highest mortality of any systemic autoimmune rheumatic disease.

Clinical Presentation

Signs & Symptoms

Symptoms are typically symmetrical and involve small joints of the hands and feet first, progressing to larger joints.

Currently Licensed States:

Systemic Involvement

Organs Affected

Cardiovascular

Pericarditis, accelerated atherosclerosis, increased MI risk

Pulmonary

Pleuritis, pneumonitis, pulmonary hypertension

Ocular

Episcleritis, scleritis, keratoconjunctivitis sicca

Haematological

Anaemia of chronic disease, Felty syndrome

Diagnosis

ACR/EULAR 2010 Criteria

Score ≥6/10 confirms RA. Applies to patients with at least 1 swollen joint not explained by another disease.

Laboratory & Imaging

Key Investigations

Pathophysiology

Disease Mechanism

1


Genetic susceptibility

HLA-DR2/DR3, complement deficiencies (C1q, C4), IRF5, STAT4 gene polymorphisms increase risk.

2


Triggering factors

UV light, infections (EBV), hormonal changes, and drugs (procainamide, hydralazine) can precipitate disease.

3


Autoantibody formation

B cells produce ANA, anti-dsDNA, and other autoantibodies. T helper cells and type I interferons amplify the response.

4


Immune complex deposition

Autoantibody-antigen complexes deposit in tissues — kidneys, skin, vessels — activating complement and causing inflammation.

5


End-organ damage

Persistent inflammation leads to fibrosis and functional impairment of target organs if disease remains uncontrolled.

Ready to Take the First Step?

Schedule a complimentary 15-minute consultation to discuss your symptoms and learn how specialty autoimmune evaluation could help you find answers.