Case Presentation: A 62-year-old female presented with a two-week history of exertional dyspnea, orthopnea, lower extremity edema, and headaches. She had puffy hands, diffuse joint pain, and skin thickening which limited range of motion of her wrists, elbows, ankles, and knees. She was hypertensive with rales and moderate edema to the knees bilaterally. BNP and creatinine were significantly elevated. Chest x-ray showed evidence of pulmonary edema with bilateral pleural effusions, and echocardiogram revealed a moderate pericardial effusion, but was otherwise unremarkable. She was noted to have sclerodactyly over her fingers and wrists and underwent a thorough autoimmune workup which revealed positive ANA (1:1280) and strongly positive anti-RNA polymerase III, but negative anti-Scl-70. Renal biopsy showed severe interstitial fibrosis and tubular atrophy consistent with arteriolar thrombotic microangiopathy due to persistent hypertension versus scleroderma renal crisis. The patient was started on steroids at presentation to treat suspected inflammatory arthritis, but these were discontinued due to concern for scleroderma with worsening renal crisis. She required high dose diuretics to achieve adequate urine output and ultimately needed dialysis for acute renal failure. Initiation of captopril was delayed due to delay in diagnosis but was started prior to discharge.
Discussion: Scleroderma (systemic sclerosis) is an uncommon, heterogenous, autoimmune disease classified based on extent of skin and internal organ involvement. This patient’s diagnosis was consistent with diffuse cutaneous systemic sclerosis, which can present with puffy hands, skin findings in the extremities and/or the trunk, as well as cardiac and renal involvement. The presence of anti-RNA polymerase III antibodies is associated with an increased risk of scleroderma renal crisis, skin involvement, and other malignancies. Scleroderma renal crisis should be treated with aggressive blood pressure management with the initiation of captopril prior to the development of irreversible kidney damage as it has been shown to have the best efficacy in kidney preservation and mortality benefit. Steroids should be avoided in patients with early diffuse scleroderma as they have been associated with an increased risk of progression to renal crisis. In this patient, high dose steroids were administered at presentation and continued for multiple days to treat suspected inflammatory arthritis, which may have contributed to clinical decline. Edematous fingers were noted on initial examination, but sclerodactyly was not. Once sclerodactyly was recognized, the initiation of captopril was delayed pending laboratory and biopsy confirmation of the diagnosis due to clinical uncertainty given negative anti-Scl 70 antibody, despite meeting diagnostic criteria based on the 2013 scleroderma classification criteria.
Conclusions: Delay in the initiation of appropriate therapy while awaiting biopsy confirmation may have contributed to a poor outcome in our case. However, given the rapid progression of her kidney failure, earlier initiation of captopril may have provided only marginal benefit. Awareness of the classic examination findings and ability to differentiate scleroderma from alternate diagnoses is critical. Recognition of sclerodactyly at the initial presentation, rather than attributing her skin and joint findings to an inflammatory arthritis, may have accelerated the appropriate work up, diagnosis, and treatment in this patient.