Analysis of Protrusio Acetabuli Using a CT-based Diagnostic Method in Korean Patients with Marfan Syndrome: Prevalence and Association with Other Manifestations

Abstract

A new CT-based diagnostic method of protrusio acetabuli (PA) was introduced. However, prevalence of PA by this method and correlation between PA and other manifestations of Marfan syndrome (MFS) is unknown in Korean MFS patients. This study aimed to investigate the prevalence of PA diagnosed by a CT-based method in Korean patients with MFS, the association of PA with other manifestations of MFS, and the contribution of PA to MFS diagnosis. We retrospectively reviewed the records of 146 MFS patients with the presence of a causative FBN1 mutation and 146 age- and sex-matched controls from a single tertiary care center. All MFS patients underwent a complete assessment of criteria based on the revised Ghent nosology. PA was assessed quantitatively using a CT-based circle-wall distance (CWD) method. PA was diagnosed in 77.4% of patients in the MFS group and in 11.0% of the control group. CWD was significantly different between the two groups (1.50 mm vs. -0.64 mm, P<0.001). The presence of PA did not correlate with the presence of ectopia lentis, aortic root diameter, or history of aortic dissection. The presence of PA did not have a significant impact on the final diagnosis of MFS. Even though the presence of PA does not related to the cardinal clinical features of MFS or influence MFS diagnosis, its presence may be helpful for the suspicion of MFS when aortic dissection or aneurysm is found on CT angiography of the aorta because of the high frequency of PA in MFS patients.Graphical Abstract

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

“…The HPO project provides a comprehensive set of computable definitions of rare diseases in the form of annotations which describe the clinical features (HPO terms) that characterize each disease. Each annotated feature can have metadata including its typical age of onset and the frequency (for instance, the HPO lists the frequency of Protrusio acetabuli [HP:0003179] in persons with Marfan syndrome as 113/146 based on a published clinical study (55)). Such annotation metadata can be used to improve the accuracy of the HPO-based matching algorithms (56).…”

Musculoskeletal diseases in Marfan syndrome: a nationwide registry study

“…Protrusio acetabuli is an intrapelvic displacement of the acetabulum and femoral head and is found in more than 75% of patients with MFS [ 30 , 31 ]. Even though it is a feature in the Ghent II nosology it is not necessary to diagnose if the phenotype is otherwise obvious [ 3 ].…”

Musculoskeletal Diseases in Marfan Syndrome – A Nationwide Registry Study.

“…Protrusio acetabuli is an intrapelvic displacement of the acetabulum and femoral head and is found in more than 75% of patients with MFS [30,31]. Even though it is a feature in the Ghent II nosology it is not necessary to diagnose if the phenotype is otherwise obvious [2].…”