Systemic Scleroderma

Diseases of the immune system; Systemic disease with skin involvement

Systemic Scleroderma

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

RVA Partner(s)

Scleroderma Australia

For more information on this disease, please refer to Scleroderma Australia.1

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.

Contributors

Information for this page has been supplied by RVA Partner, Scleroderma Australia.1

Emergency Management

There may be special considerations for the emergency management of individuals living with scleroderma presenting to emergency departments.

The following hospital care plan documents have been published by Scleroderma Australia1, with information produced in collaboration with Scleroderma/Lupus Resource Centre at the Royal Newcastle Hospital, NSW:

Clinical Care Guidelines

Information for referring practitioners can be found here for some states:

International clinical care guidelines:

Synonyms

ORPHA:90291 Systemic sclerosis

  • ORPHA:220393 Diffuse cutaneous systemic sclerosis
  • ORPHA:220402 Limited cutaneous systemic sclerosis
  • ORPHA:220407 Limited systemic sclerosis

ICD11: 4A42 Systemic sclerosis

Summary

Systemic scleroderma is a form of Scleroderma, an autoimmune condition that affects connective tissues1,2, which joins and supports other tissues and organs in the body. ‘Scleroderma’ comes from the Greek words ‘skleros’ (hard) and ‘derma’ (skin), as this condition is often characterized by the hardening or thickening of skin, and in some cases, internal organs as well.1 This is caused by a reaction of the body’s immune system resulting in too much collagen, an important protein of the connective tissue, being produced. This overproduction of collagen can lead to scarring and damage to the skin (fibrosis) and internal organs, such as the lungs, heart, kidneys, oesophagus and digestive system (gastrointestinal tract).1-3

Systemic scleroderma, also known as systemic sclerosis, can affect both skin and internal organs, unlike localised scleroderma (another form of scleroderma), which does not affect internal organs. Systemic scleroderma is divided into different subtypes4:

  • Limited scleroderma (most common2; symptoms tend to be less generalised and more restricted to certain areas)
    • Limited cutaneous systemic sclerosis – affects only the skin
    • Limited systemic sclerosis – affects one or more internal organs but not the skin
  • Diffuse scleroderma (less common but more systemic and affects both skin and internal organs; tends to be more severe)

More information about scleroderma can be found at: Scleroderma Australia: Understanding and Managing Scleroderma.

Symptoms

A common symptom of systemic scleroderma is Raynaud’s phenomenon – narrowing of blood vessels under cold or stress conditions, leading to decreased blood flow and symptoms such as change in skin colour, numbness, tingling and sometimes pain.2,5 It usually happens in fingers and toes, but can also occur to other parts of the body like the nose and ears. Another common symptom is the swelling of hands, and pain and stiffness in joints.2

Other symptoms may depend on the subtype of systemic scleroderma and the tissue/organ that is affected. Symptoms associated with limited scleroderma tend to be mild and progression is often slow, whilst diffuse scleroderma is often more severe and affects multiple parts of the body (systemic).2,5 Symptoms affecting the lungs, kidneys and heart can be life-threatening. The type of symptoms and the severity may vary between individuals.

Symptoms involving the skin may include but are not limited to2-5:

  • Thickening and hardening of skin and buildup of scar tissue (fibrosis)
  • sores or ulcerations
  • deposits of calcium (calcinosis)
  • widened (dilated) blood vessels that appear as visible red or pink lines (telangiectasia; also known as spider veins)
  • dry or itchy skin

Symptoms involving internal organs may include but are not limited to2-5:

  • heartburn
  • difficulty swallowing (dysphagia)
  • diarrhea
  • constipation and/or faecal incontinence
  • muscle pain, weakness and cramps
  • dry mouth and dental issues
  • kidney issues, including renal crisis
  • lung issues, including interstitial lung disease and pulmonary arterial hypertension (PAH)
  • heart issues

Red flags in scleroderma describes the ‘clinical features of systemic scleroderma, particularly the red flags that are indicative of significant organ disease’.5

Cause/Inheritance

Scleroderma is an autoimmune condition which causes the body to overproduce collagen. The exact cause of the autoimmune reaction is unknown.

Diagnosis

Diagnosis of scleroderma may be made based on clinical examination of symptoms/disease presentation.

A blood test to detect for the presence of specific antinuclear antibodies may be used to distinguish between the diffuse and limited forms of scleroderma.  More information about antinuclear antibodies (ANA) test and how it can be used to confirm a scleroderma diagnosis can be found at Pathology Tests Explained: Antinuclear antibodies (ANA).

Evaluation of internal organs, such as the heart, lungs, kidney, oesophagus and digestive system (gastrointestinal tract, should be performed to determine the extent of the disease.4 Red flags in scleroderma describes the ‘clinical features of systemic scleroderma, particularly the red flags that are indicative of significant organ disease’.5

Treatment

There is currently no curative treatment for scleroderma, but there are strategies to assist in the management of symptoms. This may involve different types of medication to suppress the immune system and to treat specific symptoms.2,5 Physiotherapy and exercise may help with joint mobility and muscles.2

Monitoring and regular assessment for red flags and the involvement of internal organs is important, as early treatment is more effective.5

Please speak with your medical team to learn more about management strategies for scleroderma and its associated symptoms. Treatment will depend on an individual’s specific symptoms.

Clinical Care

Healthcare professionals involved in the treatment of scleroderma may include general practitioners (GP), rheumatologists, dermatologists, pulmonologist, cardiologist, nephrologists, gastroenterologists, wound care and continence nurses, social workers, occupational therapists, physiotherapists, psychologists, and dentists.1,3 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

The Australian Scleroderma Interest Group (ASIG) is a collaboration of rheumatologists who operate multidisciplinary scleroderma centres around Australia.

Research

Information about research on scleroderma in Australia can be found at Scleroderma Australia: Australian research into Scleroderma.

The Australian Scleroderma Interest Group (ASIG) is a collaboration of rheumatologists, who in addition to operating multidisciplinary scleroderma centres around Australia, have designed the Australian Scleroderma Cohort Study (ASCS), aimed at creating a national database about people with scleroderma and mixed connective tissue disease (MCTD). They have also established a bio-bank to collect and store biological specimens from patients. More information about the ACSC and the bio-bank can be found at ASIG: ASCS Demographic & Biobank.

Scleroderma Australia: Clinical Trials Understanding Scleroderma provides an in-depth overview of what clinical trials may be like for those living with scleroderma.

Please visit Australian Clinical Trials to learn about clinical trials for scleroderma in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for scleroderma in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Rare Disease Organisation(s)

Scleroderma Australia
Website: https://www.sclerodermaaustralia.com.au/
Phone: 02 9990 5159
Email: [email protected]
Contact form: https://www.sclerodermaaustralia.com.au/contact-us/

Scleroderma Australia is the national representative voice in supporting the scleroderma community across Australia, with its governing committee made up of delegates from different states. Scleroderma Australia also produces a number of informative brochures that explain aspects of scleroderma for medical professionals, people living with scleroderma, their families and friends. These free resources can be found at: Scleroderma Australia: Free brochures and information.

There are different state organisations that provide support to people living with scleroderma:

The Scleroderma Association of New South Wales
Website: https://www.sclerodermansw.org/
Phone: 02 9798 7351
Email: [email protected]

Scleroderma Association of New South Wales provides support for those living in New South Wales, and the Australian Capital Territory.

Scleroderma Victoria
Website: https://sclerodermavictoria.com.au/
Phone: 03 9231 3651
Email: [email protected]

Scleroderma Victoria provides support for those living in Victoria, South Australia, Tasmania, and Western Australia.

Scleroderma Association of Queensland
Website: https://www.scleroderma.org.au/
Phone: 0468 801 021
Email: [email protected]

Scleroderma Queensland provides support for those living in Queensland, and the Northern Territory.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.

Social Services

Scleroderma Australia: Understanding Scleroderma and the NDIS provides information to help people with scleroderma apply for funding through the National Disability Insurance Scheme (NDIS) for support and services.

Please visit the Disability Support Information page on the RARE Portal for more information on disability supports, and the National and State Services pages for general information on other social services.

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

Other

Further information on scleroderma can be found at:

References
  1. Scleroderma Australia. Accessed 17 October 2023. https://www.sclerodermaaustralia.com.au/
  2. Scleroderma Australia. Understanding and Managing Scleroderma 6th ed. 2021. 19p. https://www.sclerodermaaustralia.com.au/wp-content/uploads/2021/07/Understanding-and-Managing-Scleroderma-6th-Edition.pdf
  3. Genetic and Rare Diseases (GARD) Information Center. Systemic sclerosis. Accessed 17 October 2023. https://rarediseases.info.nih.gov/diseases/9748/systemic-sclerosis
  4. Systemic sclerosis. Accessed 17 October 2023. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90291
  5. Li Q, Sahhar J, LittleJohn G. Red flags in scleroderma. Aust. Fam. Physician. 2008; 37(10): 831-834. https://www.racgp.org.au/getattachment/a6c7dcc0-3c03-49f7-a766-6125cd5c2510/200810Li.pdf
Page Last Updated

30/01/2024 12:53