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What is
Systemic Sclerosis?
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Description

Systemic sclerosis (scleroderma) (SSc) is a rare chronic connective tissue disorder characterized by widespread microvascular damage and excessive deposition of collagen in the skin and internal organs. The etiology is unknown.
Disease manifestation usually starts at the age of 40-50, and the estimated prevalence is 1/6500 adults. Although more common in women, SSc appears as strikingly more severe in men; there is a higher risk of severe cardiovascular involvement in men.

SSc is a heterogeneous disease whose pathogenesis is characterized by three hallmarks:
  • fibroblast dysfunction leading to increased deposition of extracellular matrix; excessive collagen production and deposition;
  • vascular abnormality resulting in tissue hypoxia;
  • an immune response manifested as altered T and B lymphocyte function and production of autoantibodies.
This causes vascular damage and fibrosis. Fibrosis occurs in skin, the gastrointestinal tract and other internal organs.
The clinical manifestations of SSc vary: the disease usually starts with Raynaud’s phenomenon followed by variable severity and speed of skin fibrosis progression. Two subsets are identified:
  • the limited cutaneous (LcSSc) subset with later organ complications
  • the diffuse cutaneous one (DcSSc) with early and severe organ damages
The limited cutaneous systemic sclerosis (LcSSc), or limited scleroderma affects only the face, forearms and lower legs up to the knee. The older term for limited scleroderma is CREST syndrome (= Calcinosis, Raynaud's disease, (O)Esophageal dysmotility, Sclerodactyly, Telangiectasia). It represents 60-70% of SSc cases.

The diffuse cutaneous systemic sclerosis (DcSSc) involves also the upper arms, thighs or trunk; it represents between 30-40% of the ~12 000 SSc patients of European EUSTAR cohort (European Scleroderma Trials and Research Group). Oesophageal involvement is present in 65% of patients, interstitial lung disease in 40%, 5% have pulmonary hypertension, 5% have heart failure and 2% have SSc renal crisis.

Clinical features

Clinical features of Systemic sclerosis are:

  • General features: fatigue and weight loss.
  • Skin features: 3 phases (1) edematous, (2) indurative, and (3) atrophic. Skin becomes thickened and tight.
    • Signs in the hand: swelling (non-pitting edema) of fingers and toes - a common early sign; digits may look sausage-like; hand movement may be limited.
    • Skin becomes hard and thickened - this may limit joint movement or cause joint contractures; in the fingers, this is known as sclerodactyly.
    • Raynaud's phenomenon or whitening of the hands on exposure to cold, is a common finding. Pain in the affected digits, blanching, cyanosis, and hyperemia can follow.
    • Calcinosis - nodules or lumps of chalky material which may break through the skin.
    • Face and mouth: Tightening of facial skin, or lips, telangiectasia, hypopigmentation and hyperpigmentation, dry or itchy skin;
  • Musculoskeletal features: Joint pain and swelling, myalgia (due to inflammatory myopathy), restriction of joint movement, contractures and muscle atrophy…
  • Gastrointestinal features: reflux oesophagitis, dysphagia, delayed gastric emptying, reduced bowel motility
  • Pulmonary features: pulmonary fibrosis (interstitial lung disease) and pulmonary hypertension

Diagnosis of Scleroderma is usually achieved through medical history and a thorough physical exam. Blood tests are performed to look for specific antibodies. A skin biopsy may be done, as well as organ specific tests to check for systemic involvement.

Management & Current treatment options

There is no cure for SSc, no treatments exist which affect the hallmark of the disease, fibrosis.

Management consists of controlling symptoms and preventing complications.

Regular monitoring and reviews are aimed at early detection and treatment of complications, including regular review of symptoms, blood pressure, renal function, lung function tests and chest CT scan, ECG and echocardiography.

Treatment regimens have enormous diversity. The treatment depends on the presentation of systemic sclerosis (management of skin problems, musculoskeletal symptoms, gastrointestinal symptoms, pulmonary disease).

Some lifestyle measures may help:
  • Avoid tobacco and maintain healthy weight.
  • Physiotherapy to promote joint mobility and muscle strength. Home exercises to maintain range of motion (such as gentle mouth, face and hand stretches).
  • For Raynaud's phenomenon: prevention by avoiding cold and trauma.

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