Systemic Sclerosis

Systemic sclerosis is an autoimmune disorder of the connective tissues where the body's immune system mistakenly attacks its own cells. Systemic sclerosis is characterized by hardening of the skin, scar formation (fibrosis), blood vessel disease and inflammation associated with an over active immune system. The disease usually affects people between the ages of 30-50 years with women more prone to the condition than men.

Types of Systemic Sclerosis

Systemic sclerosis can be classified based on the location and involvement of internal organs into two types:

  • Localized Systemic Sclerosis
  • Systemic Sclerosis

Localized systemic sclerosis involves skin changes in isolated areas, either as morphea patches or linear systemic sclerosis. Morphea is localized patchy areas of skin that become hard and slightly pigmented and can sometimes cause multiple lesions on the skin. Linear Systemic Sclerosis is more common in children and features bands of hardened skin localized usually to the arm or leg on one side of the body. Localized systemic sclerosis is the milder form of the disease and will not progress to Systemic Sclerosis, a more severe form.

Systemic sclerosis affects connective tissues of the skin and also that of the internal organs such as the heart, lungs, kidneys and digestive tract. The tissues of the affected organs may become hard and fibrous decreasing their efficiency. Systemic sclerosis is also further categorized as limited or diffuse:

  • Limited disease: This is a slower and more benign illness, typically confined to the fingers, hands, and face. It is also referred to as CREST syndrome which stands for Calcinosis, Raynaud phenomenon, Esophageal dysfunction, Sclerodactyly, and Telangiectasia.
  • Diffuse disease: This type presents with rapid skin thickening progressing to skin hardening and a high risk of developing fibrous hardening of the internal organs including the lungs, heart, bowels, esophagus and kidneys. Diffuse disease is a very serious form and can ultimately be fatal.

Causes and Risk Factors

The cause of systemic sclerosis is unknown.

Research studies indicate certain inherited genes may be responsible along with exposure to environmental factors such as silica dust and paint thinners or exposure to certain viruses. It is known that people with systemic sclerosis develop extra collagen in the skin and organs which leads to the symptoms associated with the disease.

Symptoms

The symptoms depend upon the type of systemic sclerosis and which organs are affected such as the skin, heart, lungs, kidneys, and digestive tract. Commonly seen symptoms of systemic sclerosis include:

  • Thick, tight skin on the fingers
  • Sores (ulcers) on the fingertips or toes
  • Hair loss
  • Red spots on the hands and face
  • Pain, stiffness, and swelling of the fingers and joints
  • Calcium deposits in connective tissues
  • Joint pain
  • Raynaud’s phenomenon i.e. narrowing of blood vessels in the hands or feet
  • Swelling of the esophagus, the tube between your throat and stomach
  • Constipation or diarrhea
  • Shortness of breath
  • Dry cough and wheezing

Diagnosis

Systemic sclerosis may be diagnosed through the following tests:

  • Blood tests: To assess elevated levels of certain antibodies produced by the immune system
  • Tissue sample: A biopsy of the affected skin is taken for examination in the laboratory
  • Skin assessment: This involves a thorough evaluation of the skin to assess for clues of involvement of the internal organs.

Depending upon the condition of the patient and the results of the initial evaluation the doctor may recommend further specific diagnostic tests. These tests may include chest X-rays, lung-function test, CAT scan of the lungs, EKG and echocardiograms.

Treatment

There is no cure for systemic sclerosis but rather symptoms are controlled through medications such as immunosuppressants, corticosteroids, vasodilators, and blood pressure medications.

The skin lesions associated with systemic sclerosis can be camouflaged through cosmetic procedures such as exposure to ultraviolet light or laser surgery.

Physical or occupational therapy may be recommended to manage pain and to improve your strength and mobility.

In some cases, such as finger ulcers in severe Raynaud’s disease, surgical amputation may be recommended. Similarly, patients with severe pulmonary hypertension may require lung transplants. 

Patients with a mild form of systemic sclerosis may not require any treatment.

Complications

Possible complications related to systemic sclerosis are as follows:

  • Heart failure
  • Pulmonary hypertension
  • Cancer
  • Kidney failure from elevated blood pressure
  • Esophageal stricture
  • Malabsorption of food nutrients
  • Pulmonary Fibrosis (scarring of the lungs)

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