KEYSTONE, COLO. — Systemic sclerosis sine scleroderma should be considered in a patient with the common internal manifestations of scleroderma but not the sclerodactyly, digital ulcers, or other cutaneous features of the disorder, Dr. Richard T. Meehan said at a meeting sponsored by the National Jewish Medical and Research Center.
“When you see patients who don't have scleroderma on their hands but they've got severe gastroesophageal reflux disease [GERD] and interstitial lung disease, they really might have this disorder,” said Dr. Meehan, head of rheumatology at the center.
In a series of 555 consecutive patients in the University of Pittsburgh scleroderma databank without diffuse cutaneous involvement, 9% carried the diagnosis of systemic sclerosis sine scleroderma; the remaining 91% were classified as having limited cutaneous systemic sclerosis.
Systemic sclerosis sine scleroderma is sometimes categorized as an extreme pole of systemic sclerosis with limited cutaneous involvement, and it may not be all that rare, according to Dr. Meehan and his colleagues.
They recently reported encountering over the course of 1 year six affected patients, aged 40–86 years.
All the trial participants had progressive interstitial lung disease, severe GERD, and telangiectasias, and all were positive for nucleolar antinuclear antibodies. All six were negative for anticentromere antibodies.
Four of the six patients had Raynaud's phenomenon. Dr. Meehan described the presentation of new-onset Raynaud's phenomenon after age 40 years as a red flag for scleroderma.
Pericardial effusion was also present in five of the six systemic sclerosis sine scleroderma patients, as identified by high-resolution CT or echocardiography.
Of scleroderma patients, 90%–95% have adult-onset worsening Raynaud's. They frequently also have dysphagia or refractory GERD, Dr. Meehan noted.
Consider the diagnosis in patients with severe GERD and interstitial lung disease. DR. MEEHAN