Family History in Chiari Malformation Type I: Presentation and Outcome

Background: Some patients with Chiari malformation type I (CM-1) present with a positive family history of CM-1, the significance of which remains unknown. We aimed to study whether family history affects the clinical presentation characteristics and surgical outcome of adult patients with CM-1.

Methods: A database of adult patients with CM-1 presenting between January 1, 2006 and December 31, 2018 was used. Presenting characteristics were compared between patients with and without a family history (first, second, or third degree) of CM-1. Among surgically treated patients, perioperative and long-term outcomes, with favorable outcome defined as a Chiari Outcome Scale score ≥14, were compared between patients with and without CM-1 family history. All patients completed at least 6 months of postoperative follow-up.

Results: The database consisted of 233 adult patients with CM-1, 14 of whom (6%) had a positive family history. Presenting characteristics were comparable between patients with and without a positive family history. A total of 150 patients underwent suboccipital decompression, 12 of whom (8%) had a positive family history. After a mean follow-up of 1.9 years, patients with a family history of CM-1 were significantly less likely to achieve a favorable outcome (odds ratio, 0.22; 95% confidence interval, 0.06-0.78; P = 0.019) while controlling for several covariates. Post hoc analysis showed that the difference was most significant when looking at pain symptoms.

Conclusions: Presentation characteristics are comparable between patients with and without a family history of CM-1. Patients with a positive family history may be less likely to respond favorably to suboccipital decompression.