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Nephrogenic systemic fibrosis

Overview

Nephrogenic systemic fibrosis is a rare disease that occurs mainly in people with advanced kidney failure with or without dialysis. Nephrogenic systemic fibrosis may resemble skin diseases, such as scleroderma and scleromyxedema, with thickening and darkening developing on large areas of the skin.

Nephrogenic systemic fibrosis can also affect internal organs, such as the heart, kidneys and lungs, and it can cause a disabling shortening of muscles and tendons in the joints (joint contracture).

For some people with advanced kidney disease, being exposed to certain gadolinium-containing contrast agents during magnetic resonance imaging (MRI) and other imaging studies has been identified as a trigger for development of this disease. Recognition of this link has dramatically reduced the incidence of nephrogenic systemic fibrosis.

Symptoms

Nephrogenic systemic fibrosis can begin days to months after exposure to gadolinium-containing contrast, but progresses quickly. Some signs and symptoms of nephrogenic systemic fibrosis may include:

  • Swelling and tightening of the skin
  • Thickening and hardening of the skin, typically on the arms and legs and sometimes on the body, but almost never on the face or head
  • Skin that may feel "woody" and develop an orange-peel appearance and darkening (excess pigmentation)
  • Burning, itching or severe sharp pains in areas of involvement
  • Skin thickening that inhibits movement, resulting in loss of joint flexibility
  • Rarely, blisters or ulcers

In some people, involvement of muscles and body organs may cause:

  • Muscle weakness
  • Limitation of joint motion caused by muscle tightening (contractures) in arms, hands, legs and feet
  • Bone pain
  • Reduced internal organ function, including heart, lung, diaphragm, gastrointestinal tract, or liver, but direct evidence is often lacking
  • Yellow plaques on the white surface (sclera) of the eyes
  • Blood clots

The condition is generally long term (chronic), but some people may improve. In a few people, it can cause severe disability, even death.

Causes

The exact cause of nephrogenic systemic fibrosis isn't fully understood. Exposure to gadolinium-containing contrast agents during magnetic resonance imaging (MRI) has been identified as a trigger for development of this disease. The Food and Drug Administration (FDA) recommends avoiding gadolinium-containing contrast agents in people with acute kidney injury or chronic kidney disease.

Other conditions that may lead to or promote the disease when severe kidney disease and exposure to gadolinium-containing contrast are present include:

  • Use of high-dose erythropoietin (EPO), a hormone that promotes the production of red blood cells, often used to treat anemia
  • Recent vascular surgery
  • Blood-clotting problems
  • Severe infection

Risk factors

The highest risk of nephrogenic systemic fibrosis after gadolinium exposure occurs in people who:

  • Have moderate to severe kidney disease
  • Have had a kidney transplant, but have compromised renal function
  • Are receiving hemodialysis or peritoneal dialysis
  • Have acute kidney injury

This increased risk is thought to be related to the reduced ability of these people's kidneys to remove the contrast agent from the bloodstream.

Diagnosis

Diagnosis of nephrogenic systemic fibrosis is made by:

  • Physical exam for signs and symptoms of the disease, and evaluation for a possible history of MRI using gadolinium when advanced kidney failure is present
  • A sample of tissue (biopsy) taken from the skin and muscle
  • Other tests as needed that may indicate involvement of muscles and internal organs

Treatment

There is no cure for nephrogenic systemic fibrosis, and no treatment is consistently successful in halting or reversing the progression of the disease. Nephrogenic systemic fibrosis only occurs rarely, making it difficult to conduct large studies.

Mayo Clinic doctors have experience with the following treatments for nephrogenic systemic fibrosis. More research is needed to determine if these treatments help, but they have shown limited success in some people:

  • Hemodialysis. In people with severely reduced kidney function, performing hemodialysis immediately after receiving gadolinium-containing contrast may decrease the possibility of nephrogenic systemic fibrosis.
  • Physical therapy. Physical therapy that helps stretch the involved limbs may help slow the progression of joint contractures and preserve movement.
  • Kidney transplant. For people who are appropriate candidates, improvement in renal function because of a kidney transplant may help improve nephrogenic systemic fibrosis over time.
  • Ultraviolet A phototherapy. Exposure of the skin to ultraviolet A light may reduce the skin thickening and hardening, but it's unclear if the treatment penetrates deeply enough into the skin to be effective.
  • Extracorporeal photopheresis. This treatment involves drawing the blood outside the body and treating the blood with a drug that sensitizes it to ultraviolet light. The blood is then exposed to ultraviolet light and returned to the body. Some people have shown improvement after receiving this therapy.
  • Plasmapheresis. This procedure involves removing unwanted substances from the blood by separating solid blood cells from plasma, replacing plasma with donor plasma or albumin, then mixing it with the original solid blood cells and returning it to the body.

These medications have been shown to help some people, but side effects limit their use:

  • Pentoxifylline (Pentoxil). There is limited success with this medication, which theoretically decreases the thickness and stickiness (viscosity) of blood, aiding circulation.
  • Imatinib (Gleevec). Although this treatment shows some promise in reducing skin thickening and tightening, more research is needed.
  • Sodium thiosulfate. Possible benefit has been shown using this medication, but more research is needed.

Last updated: June 16th, 2016

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