Systemic sclerosis sine scleroderma associated with antiphospholipid syndrome

Area of Science:

• Rheumatology and Immunology
• Vascular Medicine
• Autoimmune Diseases

Background:

• Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent thrombosis and pregnancy complications, often associated with antiphospholipid antibodies.
• APS can be primary or secondary to other autoimmune diseases, most commonly systemic lupus erythematosus.
• Systemic sclerosis (SS) is a connective tissue disease known for skin thickening and internal organ involvement; however, the variant 'sine scleroderma' lacks skin manifestations.

Observation:

• A patient with APS, confirmed by retinal vein thrombosis, lupus anticoagulant, and anticardiolipin IgG antibodies, was observed.
• The patient subsequently developed Raynaud's phenomenon, esophageal dysmotility, and a scleroderma pattern on nailfold capillaroscopy.
• Crucially, the patient tested positive for anti-centromere antibodies but showed no signs of cutaneous thickening, indicating SS sine scleroderma.

Findings:

• This case represents the first documented instance of Antiphospholipid Syndrome (APS) co-occurring with Systemic Sclerosis sine scleroderma (SSc sine scleroderma).
• The clinical presentation included characteristic APS thrombotic events and serological markers, followed by features suggestive of SSc without skin involvement.
• The presence of anti-centromere antibodies further supported the diagnosis of SSc sine scleroderma in this APS patient.

Implications:

• This finding expands the known clinical spectrum of Antiphospholipid Syndrome and Systemic Sclerosis, particularly the sine scleroderma variant.
• It underscores the importance of considering SSc sine scleroderma in APS patients presenting with specific clinical and serological profiles.
• Further research is warranted to understand the pathogenic mechanisms linking APS and SSc sine scleroderma and to guide clinical management.