A condition where the immune system becomes ‘overactive’ and this leads to cells in the connective tissue producing too much collagen (collagen is the main structural protein that makes up all of your tissues), causing scarring and thickening (fibrosis) of the tissue.
This then causes aches and pains in joints (rheumatic) and long term disease that effects mainly the hands and feet as well as issues with internal organs and blood vessels.
There are two main types of scleroderma:
Localised scleroderma
This condition just affects the skin called morphea and is further divided into oval or linear lesions depending on how the skin is affected.
En coup de sabre is a type of morphoea that affects the face and scalp and is associated with neurological disorders, including trigeminal neuralgia and epilepsy.
This condition involves the skin and internal organs.
It affects women and usually develops between 30 and 50 years of age.
It is further divided called limited cutaneous systemic sclerosis (affects blood vessels and skin) and diffuse systemic sclerosis (affects all organs and skin).
Both limited and diffuse SSc cause thickening of affected skin and also internal connective tissues, leading to vascular disease and organ fibrosis, and can cause severe complications in the gastrointestinal tract, lungs, heart and kidneys.
Others:
Less common forms of SSc include malignant scleroderma, which is associated with an accelerated course of disease that leads to death
SSc sine scleroderma (SSc that occurs in the absence of skin changes), which is difficult to diagnose and not normally confirmed until after death.
Diagnosis Criteria
The American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR) set the diagnostic criteria for SSc.
The criteria are largely based on the presence of the clinical features of SSc and are highly sensitive and specific (both over 90%)[5] for the disease.
Thickening of the skin on the fingers that extends beyond the metacarpophalangeal joints (the knuckles at the base of the finger) alone is enough for a diagnosis of SSc to be made.
If this is not present then additional items, each with varying weights, are considered (see ‘ACR and EULAR diagnostic criteria for systemic sclerosis’).
Table 2. ACR and EULAR diagnostic criteria for systemic sclerosis
Item
Sub-item
Score
Skin thickening of the fingers of both hands extending proximal to the metacarpophalangeal joints
Not applicable (NA)
9
Skin thickening of the fingers
(only count the higher score)
Sclerodactyly proximal to proximal interphalangeal joint
Van den Hoogen F, Khanna D, Fransen J et al. 2013 classification criteria for systemic sclerosis: an American College of Rheumatology/European League against Rheumatism collaborative initiative. Arthritis Rheum 2013;65(11):2737–2747.
Diagnosis Tests
Example of blood test results include:
Red blood cell count (RBC): Long term inflammation can cause a low red blood cell count.
White blood cell count (WBC): An elevated white blood cell count suggests the possibility of an active infection. Patients taking corticosteroids (fro inflammation) may have an elevated WBC due to the medication.
Hemoglobin and hematocrit: Low hemoglobin and hematocrit may be indicative of anaemia caused by long term diseases or possible bleeding caused by medications i.e.
Platelet count: The platelet count is often high in arthritis patients, while some potent/strong arthritis medications can cause platelets to be low.
Protein and Antibody Tests
Antinuclear antibodies (ANA): Antinuclear antibodies (ANA) are abnormal autoantibodies (immunoglobulins against nuclear components of the human cell). Moderate to high antinuclear antibody levels are suggestive of autoimmune disease. Positive antinuclear antibody tests are seen in 60% to 80% of scleroderma patients.
C-reactive protein (CRP): C-reactive protein is produced by the liver following tissue injury or inflammation. Plasma levels of CRP increase quickly following periods of acute inflammation or infection, making this test a more accurate indicator of disease activity than the sedimentation rate, which changes more gradually.
HLA tissue typing: Human leukocyte antigens (HLA) are proteins on the surface of cells. Specific HLA proteins are genetic markers for some of the rheumatic diseases. Testing can determine if certain genetic markers are present.
Erythrocyte sedimentation rate:- the erythrocyte sedimentation rate (ESR) is a nonspecific indicator of the presence of inflammation.
Uric acid: High levels of uric acid in the blood (known as hyperuricemia) can cause crystals to form which are deposited in the joints and tissues (gout).
Autoimmune disease where the immune system attacks the connective tissue under the skin and around internal organs and blood vessels. This causes scarring and thickening of the tissue in these areas.
May improve after a few years, although can cause permanent growth problems, such as shortened limbs?
Systemic sclerosis
Cutaneous systemic sclerosis symptoms:
Circulation problem where fingers and toes turn white in the cold and/or feel blood vessel spasms and/or feel emotional stress- Raynaud syndrome?
Affects skin on the hands, lower arms, feet, lower legs and face (nose and mouth), although it can eventually affect the lungs and digestive system too?
Thickening of the skin over the hands, feet and face, red spots on the skin, hard lumps under the skin?
Small, dilated blood vessels under the skin’s surface?
Tends to get gradually worse over time, although it’s generally less severe than diffuse systemic sclerosis and can often be controlled with treatment?
Medical emergency and can lead to renal failure. It occurs in around 12% of patients with diffuse cutaneous SSc and 2% of patients with limited cutaneous SSc.
It is usually preceded by marked hypertension, as it is caused by narrowing of the small renal arteries and widespread vascular disease.
Patients are usually asymptomatic in the early stages and renal function may not change until significant renal damage has occurred.
Patients with SSc should be monitored closely for possible renal crisis.
This typically requires monthly blood pressure checks and three- to six-monthly assessment of renal function.
Patients should be advised to seek medical advice if they begin to experience headache and blurry vision.
This condition can lead to:
Gastrointestinals effects:
Gastroesophageal reflux disease (GORD)
Dysphagia (swallowing difficulties)
Early satiety, bloating, nausea and vomiting.
Involvement of the lower GI tract may cause pseudo-obstruction, bacterial overgrowth and alternating constipation and diarrhoea.
Loss of rectal sensation may cause difficulties in evacuating the bowels, faecal urgency or incontinence.
If oral intake or gastrointestinal absorption is compromised, this can cause malnutrition, vitamin deficiency and electrolyte disturbances. Chronic blood loss from dilated blood vessels in the stomach can lead to anaemia. Patients who experience upper oesophageal effects are at a greater risk of aspiration pneumonia.
Altered breath sounds characteristic of ILD can be heard, but may be difficult to detect in early disease; these include ‘Velcro-like’ crackles with fibrosis or ‘squawks’ due to inflammation.
Patients with ILD will have a reduced forced vital capacity (FVC) with a normal (for population) forced expiratory volume in one second (FEV1) and reduced diffusing capacity.
High resolution computed tomography of the chest will identify inflammatory of fibrotic changes in ILD associated with SSc.
Many of the clinical features of ILD-associated SSc overlap with other causes of ILD, and accurate differentiation from other causes and management of respiratory care requires specialist input from an ILD service. Given the high incidence of this complication in SSc, patient care is often shared between specialist rheumatology and respiratory services.
There is an increase in the pulmonary artery pressure due to narrowing of the blood vessels within the lungs, affects between 10–15% of patients with SSc and is more common in those with the limited cutaneous form.
The onset is often insidious but may present as shortness of breath, especially on exertion, fatigue, chest pain, palpitations and syncope.
Right-sided heart failure, characterised by oedema, ascites and elevated jugular venous pressure, can occur in advanced disease.
Pulmonary hypertension may also be secondary to pulmonary fibrosis, where hypoxia causes vasoconstriction of the pulmonary arteries and the risk increases with diminishing lung volume.
All patients with SSc should be screened once a year for pulmonary hypertension and referred to a specialist pulmonary hypertension service for confirmation of a diagnosis.
Chifflot H, Fautrel B, Sordet C et al. Incidence and prevalence of systemic sclerosis: a systematic literature review. Semin Arthritis Rheum 2008;37:223–235.
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
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