Systemic Sclerosis

 

Pathogenesis

The following list is not meant to be exhaustive but shall sign post readers to freely available peer-reviewed open access publications (mainly reviews) prepared in the last few years by world leaders from the field on important aspects concerning the pathogenesis of systemic sclerosis.

Overview of pathogenesis of systemic sclerosis
http://www.ncbi.nlm.nih.gov/pubmed/19487220

Epigenetics, the holy grail in the pathogenesis of systemic sclerosis
http://www.ncbi.nlm.nih.gov/pubmed/24740406

Review: evidence that systemic sclerosis is a vascular diseasehttp://www.ncbi.nlm.nih.gov/pubmed/23666787

 

Classification Criteria

The classification of SSc has evolved over the last 30 years. Below are a list of key publications concerning the classification (including subsets) of SSc that have emerged over the last 4 decades.

1980 Criteria for the Classification of Systemic Sclerosis
(Arthritis Rheum 1980;23:581-90)
http://www.rheumatology.org/Portals/0/Files/Systemic%20Sclerosis%201980.pdf

The preliminary classification criteria of the ARA were somewhat restrictive requiring either the presence of proximal skin thickening (major criteria) or a combination of at least 2 minor criteria that included sclerodactyly, digital pitting scars and/or bi-basilar pulmonary fibrosis. These criteria were less successful at identifying early or limited forms of systemic sclerosis.

LeRoy and colleagues proposed subsets of SSc based on extent of skin involvement (limited versus diffuse cutaneous systemic sclerosis).

Scleroderma (systemic sclerosis): classification, subsets and pathogenesis.
(J Rheumatol. 1988 Feb;15(2):202-5)
https://www.ncbi.nlm.nih.gov/pubmed/3361530

Early diagnosis: Criteria for the classification of early systemic sclerosis
(J Rheumatol 2001;28:1573-6)
http://www.ncbi.nlm.nih.gov/pubmed?term=PMID%3A%2011469464

In recognition of advances in serological markers of systemic sclerosis and microvascular disease, LeRoy and Medsger proposed criteria for the classification of early systemic sclerosis that required objective evidence of Raynaud’s phenomenon (clinically observed or on microvascular imaging assessment) plus either abnormal nailfold capillaroscopy OR a SSc-specific autoantibody. In the absence of objective evidence of RP, patients could be classified as SSc if they had subjective features of RP AND nailfold capillaroscopic features of SSc AND a SSc-specifc autoantibody (anti-centromere, anti-Scl-70, anti-U3 RNP, anti-fibrillin, anti-PM-Scl or anti-RNA Pol III).

2013 classification criteria for systemic sclerosis: an American College of Rheumatology/European League against Rheumatism collaborative initiative.
Arthritis Rheum. 2013 Nov;65(11):2737-47.
https://www.ncbi.nlm.nih.gov/pubmed/24092682

In 2013, the ACR/EULAR classification criteria were published and have subsequently been extensively validated. The manuscript can be accessed below:
http://www.rheumatology.org/Portals/0/Files/2013%20ACR%20EULAR%20SSc%20Classification%20Criteria_Complete%20article.pdf

These criteria have largely superceded previous criteria although there may still be a role for LeRoy and Medsger’s classification criteria for early SSc and attempts are being made to develop classification criteria for “very early” disease (VEDOSS criteria requiring presence of Raynaud’s phenomenon, puffy fingers and anti-nuclear antibodies).

 

Clinical Features and Clinical Role of Autoantibodies

Diagnosis and management of pulmonary hypertension in systemic sclerosis
https://www.ncbi.nlm.nih.gov/pubmed/20425528

Predictors of end stage lung disease in systemic sclerosis
http://www.ncbi.nlm.nih.gov/pubmed/12525376

Scleroderma: the role of serum autoantibodies in defining specific clinical phenotypes and organ system involvement
https://www.ncbi.nlm.nih.gov/pubmed/25203118

Renal manifestations of systemic sclerosis-clinical features and outcome assessment
https://www.ncbi.nlm.nih.gov/pubmed/18784147

 

Screening Recommendations

Systemic sclerosis-associated pulmonary arterial hypertension
http://www.ncbi.nlm.nih.gov/pubmed/24081346

Screening patients with scleroderma for pulmonary arterial hypertension and implications for other at-risk populations
http://www.ncbi.nlm.nih.gov/pubmed/24293467

Screening and diagnostic modalities for connective tissue disease-associated pulmonary arterial hypertension: a systematic review
http://www.ncbi.nlm.nih.gov/pubmed/24012044

Risk factors associated with pulmonary arterial hypertension in patients with systemic sclerosis and implications for screening
http://www.ncbi.nlm.nih.gov/pubmed/22130820

Consensus best practice pathway of the UK Scleroderma Study Group: digital vasculopathy in systemic sclerosis
http://www.ncbi.nlm.nih.gov/pubmed/26116156

Digital ulcers: overt vascular disease in systemic sclerosis
http://www.ncbi.nlm.nih.gov/pubmed/19487218

Cardiac manifestations in systemic sclerosis
http://www.ncbi.nlm.nih.gov/pubmed/25276300

The complexity of managing systemic sclerosis: screening and diagnosis
http://www.ncbi.nlm.nih.gov/pubmed/19487228

 

Management

The following list is not meant to be exhaustive but shall sign post readers to freely available peer-reviewed open access publications (mainly reviews) prepared by world leaders from the field on various facets of the management of systemic sclerosis. Horizon scanning of novel therapeutic agents and targets form part of one of these reviews.

Update of EULAR recommendations for the treatment of systemic sclerosis.
https://www.ncbi.nlm.nih.gov/pubmed/27941129

Old medications and new targeted therapies in systemic sclerosis.
http://www.ncbi.nlm.nih.gov/pubmed/25065013

Renal disease in scleroderma: an update on evaluation, risk stratification, pathogenesis and management
http://www.ncbi.nlm.nih.gov/pubmed/22955019

Pregnancy in systemic sclerosis
http://www.ncbi.nlm.nih.gov/pubmed/18504278

Management of interstitial lung disease associated with connective tissue disease
http://www.ncbi.nlm.nih.gov/pubmed/26912511

Consensus best practice pathway of the UK Scleroderma Study Group: digital vasculopathy in systemic sclerosis
http://www.ncbi.nlm.nih.gov/pubmed/26116156

 

Outcome Measures

The following list is not meant to be exhaustive but shall sign post readers to freely available peer-reviewed open access publications (mainly reviews) prepared by world leaders from the field on outcome measures used in the assessment of systemic sclerosis.

The following paper is a useful review of the major PRO instruments used in SSc research and clinical trials:

Measures of systemic sclerosis (scleroderma).
http://www.ncbi.nlm.nih.gov/pubmed/22588774

Development of a provisional core set of response measures for clinical trials of systemic sclerosis
http://www.ncbi.nlm.nih.gov/pubmed/17893248

Measuring disease activity and functional status in patients with scleroderma and Raynaud's phenomenon
http://www.ncbi.nlm.nih.gov/pubmed/12355489

Outcome measures for heart involvement in systemic sclerosis
http://www.ncbi.nlm.nih.gov/pubmed/18784146

Heart involvement in systemic sclerosis: evolving concept and diagnostic methodologies
http://www.ncbi.nlm.nih.gov/pubmed/20142120

Update on biomarkers in systemic sclerosis: tools for diagnosis and treatment.
http://www.ncbi.nlm.nih.gov/pubmed/26168983

 

Imaging Tools

The following list is not meant to be exhaustive but shall sign post readers to freely available peer-reviewed open access publications (mainly reviews) prepared by world leaders from the field on the specific topic.

Nailfold capillaroscopy in systemic sclerosis
http://www.ncbi.nlm.nih.gov/pubmed/23620555   

Imaging of Lungs
http://dx.doi.org/10.4172/2161-1149.S1-003

 

Research Networks

EUSTAR — EULAR scleroderma trials and research
http://www.eustar.org/

Scleroderma Clinical Trials Consortium
http://www.sctc-online.org

Scleroderma Research Foundation
http://www.srfcure.org/

 

Patient Organizations

European Directory of Patients' Organizations – Scleroderma
List of national patient organizations
http://www.eu-patient.eu

Federation of European Scleroderma Associations
FESCA acts at a pan-European level to promote and achieve its objectives in alignment with the aims of the national groups it represents. As an umbrella group, FESCA supports its member organizations, while the support of individual sufferers of scleroderma remains the sole remit of national organizations
http://www.fesca-scleroderma.eu

International Scleroderma Network
Full-service non-profit scleroderma charitable foundation providing stellar worldwide research, support, education and awareness for scleroderma and related illnesses, such as pulmonary hypertension
http://www.sclero.org

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIAMS Handout on scleroderma
http://www.niams.nih.gov/Health_Info/Scleroderma

Scleroderma Raynaud’s United Kingdom (SRUK)
The UK’s charity for Scleroderma and Raynaud’s.
https://www.sruk.co.uk/

Scleroderma Foundation
The Scleroderma Foundation is the national organization for people with scleroderma in the United States of America
http://www.scleroderma.org