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Scleroderma: Causes, Symptoms, Treatment & Legal Options

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scleroderma-and-symptoms-treatmentsMedical & Legal Information on Scleroderma: Causes & Treatment Options

• Scleroderma Overview
• Who Is at Risk?
• Scleroderma Symptoms
• What Causes Scleroderma?
• Risk Factors
• Diagnosing Scleroderma
• Treating Scleroderma
• Ongoing Research


Scleroderma Overview

Scleroderma (systemic sclerosis) is an often-serious rheumatic, chronic autoimmune disease that affects the body’s connective tissue but can spread to vital organs and other areas of the body. Like all autoimmune diseases, scleroderma works against the body’s protection of attacking foreign invaders including bacteria, viruses, and infection. The disease mistakenly identifies healthy tissue in the body as a foreign invader and builds a protective attack which works against a healthy system.

The rare disease forms when the body cells begin making collagen to repair an injury that does not exist and never turns off after creating high levels of collagen. The additional unneeded tissue collagen prevents organs in the body from functioning normally. The severity of the disease varies greatly among individuals. Some people experience nothing more than moderate annoyance where others suffer severe life-threatening symptoms.

Who Is at Risk?

Research indicates that approximately 20 out of every 1 million adults in the United States suffer from some form of scleroderma including scleroderma-related disorders (like Raynaud’s phenomenon). Women are three times as likely to develop scleroderma (systemic sclerosis) as men and more than 15 times as likely during their childbearing years. Individuals of European descent are less likely to acquire the disease compared to African-Americans.

Most forms of the disease present themselves before the individual is 40 years of age. The average survival rate for men and women at 10 years is approximately 70 percent to 80 percent.

Scleroderma Symptoms

The signs and symptoms of scleroderma vary among individuals. However, the most common symptoms involve:

  • Skin – Nearly every scleroderma case involves tightening and hardening of skin patches that often appear as straight lines and ovals that cover wide areas of the body’s limbs and trunk. The patch’s size, location, and number can also vary. Due to tautness or tightening of the skin, it takes on a shiny appearance and greatly restricts movement.
  • Digestive System – Scleroderma can cause acid reflux that damages portions of the esophagus close to the stomach and causes acid to back up. In addition, the disease can cause nutrient absorption problems if the intestinal muscles lack the capacity to transport food and nutrients through the intestine normally. The narrowing of the esophagus can make swallowing food challenging.
  • Toes or Fingers – Onset scleroderma often produces exaggerated responses to emotional distress or cold temperatures leading to color changes, pain and numbness in the toes and fingers. This condition is referred to as Raynaud’s phenomenon (disease) and can occur in individuals not suffering from scleroderma.
  • Kidneys, Lungs or Heart – The disease can affect the kidneys, lungs, and heart that at times becomes a life-threatening condition. Scleroderma affecting the heart can cause significant damage to heart muscle and produce abnormal electrical activity, irregular heart rhythms and pericarditis (inflammation around the heart).

What Causes Scleroderma?

Researchers and doctors have yet to determine the exact causes of scleroderma but believe certain hereditary factors and environmental exposures play key roles in its development. These factors cause the immune system to respond to susceptible sufferers, leading to significant damage to the interlining of small blood vessels. Additionally, the response can cause significant injury to tissue and leave scar formations from the excess accumulated collagen.

Genetic predisposition to scleroderma by inheriting the ability to cause the mutation of genes plays at least a small role in its development. Many individuals with scleroderma also suffer from other autoimmune diseases. Statistics indicate that the disease is more frequent in women than in men.

Risk Factors

Studies indicate that the combination of exposure to viruses and/or environmental factors combined with genetic mutations may trigger the onset of scleroderma in those who are genetically susceptible.

Statistics indicate that scleroderma tends to occur more often in females compared to males, and African-Americans and Choctaw Native Americans are more likely to develop some form of scleroderma affecting their internal organs compared to individuals of European descent.

Diagnosing Scleroderma

Identifying common clinical features of the disease is essential to diagnosing scleroderma. Doctors will usually conduct extensive blood tests to detect the presence of anti-nuclear antibodies (ANAs) and autoimmunity indicators. The presence of the anti-centromere antibody nearly always indicates some form of developing systemic sclerosis.

The doctor may wish to evaluate the stomach and bowels using gastrointestinal tests and also conduct chest x-rays, lung functioning tests, electrocardiograms, echocardiograms, CT scans and a heart catheterization to look for pulmonary hypertension by evaluating the pressure levels in the arteries of the lungs and heart.

Treating Scleroderma

In the first 3 to 5 years of the disease, skin problems related to scleroderma can diminish without treatment. However, most cases tend to progress and affect the internal organs over time. No medication has been the developed that can halt the progressing process of the disease that over produces high levels of collagen. Doctors often recommend various medications and products to treat the disease and minimize some symptoms associated with scleroderma. These medications and products include:

  • Prevent Kidney Failure – Doctors can recommend some form of aggressive treatment involving enzyme ACE inhibitors like Lisinopril. Colchicine seems to be effective at decreasing tenderness and inflammation caused by calcinosis nodules and emollient-laced lotions like Curiel, Lubriderm, and Eucerin are effective at reducing itchy skin.
  • Dilate Blood Vessels – Low-Dose Aspirin can be a part of a scleroderma treatment plan to alleviate many of the symptoms associated with mild Raynaud’s phenomenon by stopping tiny blood clots from forming in the fingers that prevent warmth in the hands.
  • Prevent Infections – The doctor may recommend the use of antibiotic ointments and pneumonia and flu vaccinations to guard the lungs against damage caused by the disease.
  • Reduce Stomach Acid – Some medications including Prevacid (lansoprazole), Nexium (esomeprazole) and Prilosec (omeprazole) can minimize scleroderma-related heartburn and irritation of the esophagus. Doctors often recommend scleroderma sufferers to quit smoking and avoid caffeine.
  • Relieve Pain and Discomfort – The use of OTC (over-the-counter) pain relievers might be all that is required to alleviate pain and discomfort. If not, the physician can recommend strong and effective prescription medications.
  • Therapies – Occupational and physical therapies are highly effective in managing pain, maintaining independence, and improving mobility and strength.
  • Surgeries – As a last resort, the doctor may recommend available surgical options to minimize the complications associated with scleroderma. These options could include:
  • Lung Transplant – Individuals who have developed pulmonary hypertension (pressure in the arteries of the lung) might require a lung transplant to restore normal activities of daily living.
  • Amputation – Ulcerations in the fingers and toes that are the result of Raynaud’s disease might lead to gangrene where amputation is the only option.

Ongoing Research

Scientists and researchers are performing current studies on the causes, risk factors, diagnosing techniques and treatments involving scleroderma to improve successful outcomes of the disease. Current research being done includes:

  • Studies to understand how genetics is associated with scleroderma
  • The development of new medicines to prevent skin from becoming thick and new treatments for lung and kidney scleroderma-associated problems.
  • The development of diagnostic testing for earlier detection and identification of scleroderma.


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