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June 2009

Genetic Risk for Rotator Cuff Disease
Lisa M. Frantz, PA-C

The exact etiology of rotator cuff disease is unknown. Several current theories about the cause of rotator cuff disease include decreased blood supply to the tendon, mechanical impingement or compression on the undersurface of the acromion, and intrinsic tendon degeneration. Some researchers are now suggesting there is a genetic predisposition to rotator cuff tears.

This theory was the focus of a study published in the Journal of Bone and Joint Surgery last month. The authors performed their investigation at the University of Utah School of Medicine. The study subjects were taken from the University of Utah Hospital and Clinics since 1994 and linked to the Utah Population Database, which includes genealogical information on over 2 million Utah founders and their descendants. Specifically, individuals with a diagnosis of rotator cuff tear or rotator cuff repair were analyzed to identify familial relationships.

The results of this study strongly suggest that there is a correlation of rotator cuff disease in parent-child relationships and sibling relationships. When early-onset rotator cuff tears are diagnosed before the age of 40, there is a strong correlation out to a genetic distance of third cousins. This finding strongly supports the theory of genetic predisposition to rotator cuff disease.

The take home message for our patients is simple: If you have shoulder pain and a member of your family has been diagnosed with a rotator cuff problem or has had a rotator cuff repair, especially before the age of 40, then you should have your shoulder examined specifically for a rotator cuff problem. There may very well be a genetic link that predisposes you to a rotator cuff tear.

Reference

Tashjian RZ, Farnham JM, Albright FS, Teerlink CC, Cannon-Albright LA. Evidence for an Inherited Predisposition Contributing to the Risk for Rotator Cuff Disease. J Bone & Joint Surg; 91-A(5): 1136-42, May 2009.