Non-hereditary arterial tortuosity syndrome in systemic sclerosis

Two months after initiating anticoagulation for pulmonary embolism secondary to retropubic prostatectomy, an 80-year-old man sustained a left kidney laceration following a traumatic fall. Extremely tortuous iliac and femoral arteries were encountered during CT guided embolization of the left renal artery. This was the first indication of an existing arteriopathy. Five months later, during outpatient follow-up of the pulmonary embolism, the patient reported marked discoloration of his fingers, shortness of breath, difficulty swallowing, and skin tightening involving the hands, arms, legs, and mouth. These symptoms began many years prior, although were overlooked due to their initially mild nature. Additional medical history was only notable for mild chronic kidney disease. An in-office walking stress test resulted in significant oxygen desaturation and finger discoloration on pulse oximetry. On referral to the emergency department, a normal blood gas analysis suggested the low oxygen saturation was a result of insufficient blood flow to the digits. Upper extremity arterial and venous Doppler showed normal perfusion of the large vessels. Upper extremity arteriography illustrated arterial tortuosity and nearly absent blood flow from the proximal phalanges to the fingertips (Figure 1A). Positive anti-nuclear antibodies (>1:1280) and anti-sclerodermal antibody SCL-70 (>8 AI; reference rage 0.0-0.9AI) supported the diagnosis of systemic sclerosis. Anti-centromere antibody, anti-RNA polymerase III, anti-ribonucleic acid antibody, rheumatoid factor, and anti-JO-1 were negative. Furthermore, the presence of marked tortuosity of all large and medium-sized arteries was radiologically diagnostic of an existing arterial tortuosity syndrome. The aorta (Figure 1B), carotid, internal thoracic, subclavian, renal, and iliac arteries (Figure 1C) were most vividly affected. The small branches of these arteries were similarly affected. The vascular anomalies could not be ascribed to familial aortopathies, as genetic testing was negative for the following genes: SLC2A10, ACTA2, COL3A1, FBN1, MYLK, MYH11, SMAD3, TGFB2, TGFBR1, TGFBR2, and the MED12 (c.3020>G) variant.