Significant Periocular Swelling as a Sign of Systemic Amyloidosis

Area of Science:

• Ophthalmology
• Hematology
• Pathology

Background:

• Amyloidosis is a rare condition characterized by abnormal protein deposits.
• It can affect various organs, including the orbits, leading to mass lesions.
• Distinguishing orbital amyloidosis from other conditions like IgG4-related disease is clinically important.

Purpose of the Study:

• To report a case of orbital and periocular amyloidosis.
• To emphasize the diagnostic challenges and importance of considering amyloidosis in specific patient populations.
• To highlight the clinical presentation and diagnostic workup of orbital amyloidosis.

Main Methods:

• Case report of a 66-year-old woman with progressive bilateral periorbital fullness.
• Clinical examination, MRI of the orbits, and orbitotomy with muscle and eyelid biopsy.
• Pathological examination of biopsied tissues.

Main Results:

• The patient presented with 8 years of periorbital fullness, eyelid edema, and skin laxity.
• MRI revealed thickening of extraocular muscles.
• Biopsy confirmed orbital and periocular amyloidosis, associated with cardiac amyloidosis and plasma cell dyscrasia.

Conclusions:

• Orbital amyloidosis is a rare differential diagnosis for orbital mass lesions.
• Persistent periocular edema and cutis laxa in patients with plasma cell dyscrasia warrant consideration of amyloidosis.
• Early diagnosis and management are essential for better patient outcomes.