P4544Prevalence of renal, hepatic, and pulmonary cysts in Marfan syndrome and matched controls: interest of a cystic score

Background Recently an increased prevalence of renal cysts has been reported in patients with aortic aneurysm or dissection. The Marfan Syndrome (MFS) is associated with severe aortic disease. Some cases of cystic lungs have been associated with MFS and one series reported an increased prevalence of hepatic cysts in MFS patients. However, no study focused on multi-organ cystic disease in this particular population. Purposes The aims of this paper were to evaluate the prevalence of renal, hepatic, and pulmonary cysts in MFS patients with FBN1 mutations as compared to matched controls without MFS and analyze the link between a cystic score, defined as 1 point for each organ with at least one cyst, and aortic surgery in MFS patients. Methods All consecutive MFS patients with a mutation in the Fibrillin-1 (FBN1) gene who underwent a CT scan were included in the study. They were matched 1:1 for age and sex with controls without MFS. Results Between 2010 and 2016, 264 patients were included in this study. The prevalence of cysts was significantly increased in MFS patients as compared with controls: 40% for renal cysts in MFS patients versus 23% in controls; P = 0.003, 21% for hepatic cysts in MFS patients versus 8% in controls; P = 0.003, and 28% for pulmonary cysts in MFS patients versus 4% in controls; P Fig. 1 ). Conclusion This study reports for the first time an increased prevalence of renal, hepatic, and pulmonary cysts in MFS patients with FBN1 mutation as compared with matched controls. About 2 out of 3 MFS patients exhibited at least 1 cyst in any of these organs, a prevalence 2 fold higher as compared with controls. In MFS patients, a higher cystic score was associated with aortic surgery and could represent a marker of severity of the disease.