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.

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

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.

• Hemodialysis.
• Physical therapy.
• Kidney transplant.
• Ultraviolet A phototherapy.
• Extracorporeal photopheresis.
• Plasmapheresis.