Significant Periocular Swelling as a Sign of Systemic Amyloidosis

The authors report a case of a 66-year-old woman with 8 years of progressive bilateral periorbital fullness, eyelid edema, and skin laxity. She had a history of thyroid cancer, smoldering myeloma, and systemic amyloidosis. The exam demonstrated significant bilateral periorbital fullness with mild limitation of extraocular motility in all directions bilaterally without double vision. The patient also reported regions of skin excess and edema throughout her body, not just isolated to her eyelids. Progressive dyspnea on exertion, lower extremity edema, and cough led to cardiac workup, resulting in a diagnosis of cardiac amyloidosis. Given persistent and progressive eyelid swelling, MRI of her orbits was obtained, which demonstrated thickening of the extraocular muscles. Orbitotomy with biopsy of the right medial rectus muscle along with periocular eyelid skin was performed with pathology consistent with orbital and periocular amyloidosis. Amyloidosis is a rare cause of orbital-mass lesions and may appear clinically similar to IgG4-related disease, lymphoma, and thyroid eye disease. This case highlights the importance of considering amyloidosis, especially in the setting of plasma cell dyscrasia, with presentation with persistent periocular edema and cutis laxa.