NEPHROGENIC SYSTEMIC FIBROSIS

ALTERNATE NAMES

Nephrogenic Fibrosing Dermopathy; NSD; NSF

DESCRIPTION

Nephrogenic Systemic Fibrosis (NSF) is a rare disease involving severe thickening and hardening of the skin (fibrosis) overlying the extremities and trunk. The cause of nephrogenic systemic fibrosis is attributed to the connexation of renal insufficiency and gadolinium exposure from imaging studies. The exact degree of renal insufficiency that sets up the development of nephrogenic systemic fibrosis is not known. Risk factors include advanced chronic kidney disease (stages 3, 4 and 5) and acute or chronic inflammatory insults.

Symptoms of NSF include painful, burning itching skin, red/dark areas on the skin, skin thickening, edema, loss of flexibility and severe limitations in movement at the joints of the ankles, knees, feet, arms, wrists, and hands, and raised yellow discoloration on sclera. Fibrosis (thickening) involving the internal organs, including the lungs (with reduced diffusing capacity for carbon monoxide) and diaphragm (with respiratory failure), myocardium, pericardium and pleura has been reported. NSF affects males and females in approximately equal numbers. NSF may occur in children but most commonly affects the middle-aged.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Diagnostic testing may include positive antinuclear antibody tests and the presence of hepatitis B or C. All people affected with NSF have a history of renal insufficiency or varying severity and duration and gadolinium exposure. A small number of individuals have primarily liver disease. Most individuals have had treatments that include hemodialysis, peritoneal dialysis or renal transplantation. However, neither dialysis nor renal transplantation is a prerequisite for NSF. Histological findings may include thickened collagen bundles with surrounding clefts, early lesions and spindle cells.

ICD-9: 701.8

ONSET AND PROGRESSION

NSF is a debilitating and sometimes fatal disease. People with a fulminant (disease developing or progressing suddenly) form of NSF may become wheelchair dependent within weeks due to development of flexion contractures and loss of mobility. Death may result from complications of kidney disease or transplant surgery. In addition, fractures and falls from wheelchair dependency may be fatal.

TREATMENT

NSF is usually a chronic progressive condition. Rare cases of partial to complete spontaneous resolution have been reported in the absence of specific therapy, with the return of renal function. A favorable response to medical intervention is anecdotal. Of all treatments, extracorporeal photopheresis (ECP) seems to provide the best, albeit mild and extremely expensive treatment modality for nephrogenic systemic fibrosis.

Steroids and massage therapies may be used to decrease the discomfort associated with skin thickening and connective tissue formation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

• Clinical information documenting chronic kidney disease

• Clinical examination including description of fibrotic changes and description of functional limitations.

• Laboratory studies documenting serum creatinine in the blood

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

6.02 A

106.02 A, C & D

Use 6.02A or 106.02A when the claimant is on dialysis.

Use 106.02C or D when the lab findings are at the required level.

Medical Equals

1.02A or B

6.02C

14.04B

Consider respiratory or cardiovascular listings, as appropriate, when the fibrosis affects the lungs or heart.