Nephrogenic Systemic Fibrosis: Symptoms, Diagnosis, and Treatment

Nephrogenic Systemic Fibrosis (NSF) is a rare disease that is characterized by fibrosis of the skin, joints, eyes, and internal organs. Fibrosis is a condition whereby skin becomes tight/hardened and swells to become very tender to the touch. NSF is related to gadolinium exposure in patients with severe kidney failure. Gadolinium is a contrast dye that is used during many MRI procedures. Up to this point, only patients exposed to gadolinium and have severe kidney failure have been diagnosed with NSF. It is not yet clear why gadolinium can have this affect on individuals with kidney failure, but investigations are underway (Nephrogenic systemic fibrosis: an emerging threat among renal patients., DeHoratius DM, Cowper SE, www.pubmed.gov).

Symptoms of Nephrogenic Systemic Fibrosis

Symptoms of NSF almost always include swelling and tightening of the skin involved. Sometimes this can cause contractures, which makes it difficult for the patient to move joints. This, in turn, can make it difficult to walk or lift objects.

The affected areas can also develop patches of skin that have become dark red in color and produce burning, itchy skin that is quite painful. There have also been reports of patients having a feeling of muscle weakness as well. Severe pain deep in the hips and ribs are also common.

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Diagnosis of Nephrogenic Systemic Fibrosis

NSF is no respecter of gender or age. It can affect anyone, young or old, who has kidney failure and has been exposed to gadolinium (What is NSF, Shawn E. Cowper, M.D., Assistant Professor of Dermatology and Pathology, Yale University; The International Center for Nephrogenic Fibrosing Dermopathy Research (ICNFDR).

Diagnosing the disease is as easy as performing a punch skin biopsy on a patient suspected to have the disease. The biopsy is then looked at under a microscope to find out how much progression of the disease has taken place. NSF can occur suddenly over a few days or have a gradual progression over several weeks. Because of its tendency for rapid progression, diagnosing the disease as early as possible is crucial to the patient.

Treatment of Nephrogenic Systemic Fibrosis

NSF is a potentially fatal disease, especially if it is not treated promptly. The only consistent form of treatment seems to be in improving kidney function, which can take time. Aggressive treatment can, in some cases, actually reverse the affects of NSF.

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Other forms of treatment that are being tried with some success include oral steroids to help reduce inflammation caused by fibrosis, along with topical creams that can help improve constriction of blood vessels, allowing improved circulation in major organs. Physical therapy has also proven beneficial in some patients, which can slow down the progression of joint contractures.

Because NSF can cause severe contractures, patients are at greater risk of falling or developing fractures because of the inability to move joints properly. Fibrosis (scar tissue) can cause constriction of air movement in the lungs, leading to poor breathing. Other major organs can be affected by an inability to function properly, causing untimely death in some patients.

It is vital that patient-doctor communication is excellent when it comes to treating patients with NSF. This is the only way that doctors can document their personal findings and experiences with the disease to try to formulate better and more consistent treatment options.

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