Primary antiphospholipid syndrome masquerading as diabetic retinopathy

Area of Science:

• Ophthalmology
• Rheumatology
• Hematology

Background:

• Primary antiphospholipid syndrome (PAPS) is a systemic autoimmune disorder characterized by thrombosis and antiphospholipid antibodies.
• Ocular involvement, specifically vaso-occlusive pathology, is a known but often under-recognized feature of PAPS.

Observation:

• A 47-year-old myopic Chinese woman with PAPS presented with incidental retinal vascular leakage.
• Initial misdiagnosis as diabetic retinopathy was ruled out by a negative glucose tolerance test.
• Subsequent development of retinal vaso-occlusion confirmed the ocular manifestation of PAPS.

Findings:

• The patient exhibited subclinical cerebral thrombosis, mild thrombocytopenia, and positive antiphospholipid antibodies.
• Anticoagulation therapy with warfarin effectively prevented further thrombotic events.
• Retinal vascular leakage and vaso-occlusion were key indicators of underlying PAPS.

Implications:

• This case highlights the importance of considering PAPS in patients with unexplained retinal vascular diseases.
• Ophthalmologists should be vigilant for signs of PAPS in patients presenting with retinal vascular pathology without typical risk factors.
• Timely diagnosis and management of PAPS can prevent severe thrombotic complications, including ocular events.