Intersecting Pathways: Moyamoya Syndrome and Antiphospholipid Antibodies—A Comprehensive Review of Clinical Insights, Therapeutic Considerations and Prospective Perspectives

Background/Aim: Moyamoya disease, a rare cerebrovascular disorder first identified in Japan, is characterised by spontaneous occlusion of the circle of Willis and is a significant cause of ischaemic and haemorrhagic strokes. When associated with autoimmune disorders like antiphospholipid syndrome, it is referred to as moyamoya syndrome. This study reviews the clinical features of moyamoya syndrome in patients with antiphospholipid antibody positivity, with and without antiphospholipid syndrome, focusing on clinical differences, treatments and outcomes.

Methods: To identify relevant studies, a comprehensive systematic literature review search was conducted using the terms ‘Moyamoya’, ‘antiphospholipid’, ‘anticardiolipin antibodies’, ‘anti-beta2-glycoprotein I antibodies’ and ‘lupus anticoagulant’.

Results: Twelve cases of moyamoya syndrome with antiphospholipid antibody positivity were reviewed. Eight met antiphospholipid syndrome criteria with diverse antibody profiles. Treatments included antiplatelet therapy, anticoagulants and bypass surgery. While eight patients experienced no recurrent strokes during follow-up, three had recurrent strokes, and two died from haemorrhagic events. Individualised management was crucial for balancing treatment benefits and risks.

Discussion: Moyamoya disease involves internal carotid artery stenoses, also seen in antiphospholipid syndrome. While the connection between moyamoya disease and antiphospholipid antibody positivity remains unclear, antiphospholipid syndrome should be ruled out during diagnosis. Surgical treatments are less frequent in antiphospholipid antibody-positive patients than in general moyamoya disease. Recurrent cerebrovascular events under medical treatment highlight the potential need for broader surgical interventions in these patients.

Conclusion: The limited number of reported cases restricts the generalisability of the current findings and calls for cautious interpretation. This underlines the need for further multicentre studies and randomised trials to optimise therapeutic strategies, elucidate the role of antiphospholipid antibodies and establish evidence-based guidelines for the management of moyamoya syndrome and its variants.