2026 Poster Presentations
P256: RATES OF CEREBROSPINAL FLUID LEAKS IN PATIENTS WITH MARFAN SYNDROME: A TRINETX STUDY
Veenadhari Kollipara, BA; Kunal A Koka, BS; Kyle J Schantz, BS; Neerav Goyal, MD, MPH, FACS; Penn State College of Medicine
Background: Studies have established a connection between Marfan syndrome and spontaneous cerebrospinal fluid (CSF) leaks, along with other hypermobile connective tissue disorders. This association is attributed to dural ectasia, which has a high prevalence in Marfan patients and creates structural weakness that may predispose to CSF leakage through weakened dural membranes and development of meningeal diverticula. The underlying pathophysiology involves abnormal fibrillin-1 protein deposition that compromises the integrity of connective tissue structures throughout the neuraxis. Despite case reports documenting this association between CSF leaks and Marfan syndrome being documented, the prevalence of spontaneous CSF leaks in the Marfan syndrome population remains unclear.
Study Design: Retrospective cohort study
Methods: Patients diagnosed with Marfan syndrome with a healthcare visit between 2009 and 2018, with at least 5 years of follow up were queried using the TriNetX Research Network. Exclusion criteria included patients with: benign intracranial hypertension; Ehlers-Danlos; intracranial injury; fracture of skull and facial bones; injury of nerves and spinal cord at the level of the neck, thorax level, and lumbar and sacral levels; benign neoplasms of the brain and meninges; and malignant neoplasms of the brain and meninges. Rates of CSF leaks were then compared with the control cohort using appropriate statistical methods.
Results: We identified 15,050 patients with Marfan syndrome and 40,797,299 patients in the control cohort. The average of patients when included in the study was 25.3 years and 37.3 years for the Marfan’s cohort and control cohort, respectively. The risk of CSF leak development in patients with Marfan syndrome is 0.538% and 0.062% in the control cohort, with a risk ratio 8.652 (95% confidence interval 6.961 - 10.755, p < 0.0001).
Conclusion: Patients with Marfan syndrome show a significantly increased likelihood of experiencing CSF leaks relative to the general population, with an 8-fold elevated risk that reinforces the proposed link between the dural weakness in Marfan syndrome and spontaneous CSF leakage. These findings highlight the importance of incorporating clinical suspicion for CSF leaks in routine monitoring and management protocols for this patient population. Clinicians should maintain heightened awareness for symptoms of intracranial hypotension in Marfan patients, potentially leading to earlier diagnosis and treatment of serious complications.