A 45-year-old woman has pain in her fingers on exposure to cold, arthralgias, and difficulty swallowing solid food. She has a few telangiectasias over the chest but no erythema of the face or extensor surfaces. There is slight thickening of the skin over the hands, arms, and torso. What is the best diagnostic workup?
The symptoms of Raynaud phenomenon, arthralgia, and dysphagia point toward the diagnosis of scleroderma. Scleroderma, or systemic sclerosis, is characterized by a systemic vasculopathy of small-and medium-sized vessels, excessive collagen deposition in tissues, and an abnormal immune system It is an uncommon multisystem disease affecting women more often than men. There are two variants of scleroderma-a limited type (previously known as CREST syndrome) and a more severe, diffuse disease. Antinuclear antibodies are almost universal. Anti-Scl-70 (also known as anti-topoisomerase-1) antibody occurs in only 30% of patients with diffuse disease, but a positive test is highly specific. Anti-centromere antibodies are more often positive in limited disease. Rheumatoid factor is nonspecific and present in 20% of patients with scleroderma. Elevated CK and anti-Jo-1 antibodies are expected in an inflammatory myositis such as polymyositis. Skin thickening similar to scleroderma can be seen in nephrogenic systemic fibrosis (NSF), a progressive condition that occurs in patients with stage 5 chronic kidney disease, but NSF almost always follows gadolinium administration for an MR scan. Reproduction of Raynaud phenomena is nonspecific and is not recommended as an office test.
Rheumatoid factor and anti-CCP antibodies
Antinuclear, anti-Scl-70, and anticentromere antibodies
Creatine kinase (CK) and antisynthetase antibodies (such as anti-Jo-1)
BUN and creatinine
Immunology and Rheumatology