Journal Scan

Musculoskeletal disease burden significant in patients with Marfan syndrome

Posted on

Individuals with Marfan syndrome experience significant musculoskeletal disease resulting in the need for corrective surgery for many, according to a study.

Using data from a nationwide registry, the musculoskeletal diagnoses and surgical treatments of 407 patients with Marfan syndrome and 40,700 controls were analyzed.

Musculoskeletal diagnosis in patients with Marfan syndrome was significantly increased compared to controls. Overall, all 1 out of 6 with Marfan syndrome was registered with scoliosis; 1 out of 11 was registered with a pectus deformity; and 1 out of 6 with a deformity of the foot

Of the 407 patients with Marfan syndrome, 94 underwent musculoskeletal surgery, which was a significantly higher portion than the controls.

Major areas of surgery included spine, pectups correction, and surgery of the foot/ankle.

The authors noted that 10 patients underwent elective orthopedic surgery prior to being diagnosed with Marfan syndrome. These patients did not have scoliosis, pectus deformity, or a foot deformity.

“Surgeons should be aware of undiagnosed patients with Marfan syndrome when treating patients with a Marfan syndrome like-phenotype,” the authors wrote.

For patients with an aortic dissection with ≥1 major musculoskeletal abnormality, the age at dissection was 34.3 years; for patients without a major abnormality, the age at dissection was 45.1 years (P < 0.01).

Andersen NH, Hauge EM, Baad-Hansen T, et al. Musculoskeletal diseases in Marfan syndrome: a nationwide registry study. Orphanet J Rare Dis. 2022 Mar 5;17(1):118. doi: 10.1186/s13023-022-02272-2. PMID: 35248143.