Tuberous sclerosis and primary antiphospholipid syndrome

Area of Science:

• Neurocutaneous disorders
• Immunology
• Genetics

Background:

• Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by hamartoma formation.
• Co-occurrence of TSC with hypercoagulable states is rare, with few cases reported for protein C/S deficiency and systemic lupus erythematosus.
• Primary antiphospholipid syndrome (APS) is an autoimmune disorder associated with an increased risk of thrombosis.

Purpose of the Study:

• To report the first documented case of TSC coexisting with primary antiphospholipid syndrome.
• To investigate the potential genetic and molecular links between TSC and thrombotic events.

Main Methods:

• Case report of an adolescent female with TSC and primary APS.
• Clinical presentation included ash-leaf spots, shagreen patches, cortical tubers, seizures, and ophthalmic artery thrombosis.
• Diagnostic work-up involved lupus anticoagulant testing and TSC1 gene mutation analysis.

Main Results:

• The patient presented with acute unilateral vision loss due to ophthalmic artery thrombosis.
• Lupus anticoagulant was detected, confirming APS.
• Genetic testing revealed a TSC1 gene mutation.
• The patient was managed with anticoagulation (aspirin, warfarin) and anti-seizure medications.

Conclusions:

• This case represents the first documented instance of TSC associated with primary antiphospholipid syndrome.
• Experimental models suggest TSC1 deficiency may contribute to thrombosis, though the human association requires further clarification.
• Podoplanin is a potential candidate gene linking TSC-related epilepsy and thrombosis.