Evidence for an Environmental and Inherited Predisposition Contributing to the Risk for Global Tendinopathies or Compression Neuropathies in Patients With Rotator Cuff Tears.

Background: Rotator cuff tearing has been found to be clinically associated with other tendinopathies and compression neuropathies; a significant excess of these phenotypes has been seen in patients with rotator cuff tears. It is unclear if the association is secondary to environmental or genetic influences.

Purpose: To examine population-based data for comorbid association of rotator cuff tearing and tendinopathies and compression neuropathies and to determine whether the association extends to relatives of patients with rotator cuff tears, which could suggest a genetic contribution.

Study Design: Cross-sectional study; Level of evidence, 3.

Methods: The Utah Population Database (UPDB) contains health and genealogical data on over 2 million Utah residents. Current Procedural Terminology, Fourth Revision, codes (CPT 4) and International Classification of Diseases, Ninth Revision, codes (ICD-9) entered in patient records were used to identify patients with rotator cuff tearing and with comorbid tendinopathies and compression neuropathies. We tested the hypothesis of excess familial clustering of these other phenotypes with rotator cuff tearing using a well-established method (estimation of relative risks) in the overall study group of rotator cuff patients (N = 1889).

Results: Significantly elevated risk for elbow, hand/wrist, foot/ankle, knee, and hip tendinopathies, as well as for all tendinopathies and compression neuropathies, was observed in rotator cuff tear cases themselves (P < 2.8e(-13)), in their spouses (P < .02), and in their first-degree relatives (P < 5.5e(-4)). A significant excess of elbow (P = .01), foot/ankle (P = .04), and all tendinopathies (P = 3.1e(-3)) was also observed in second-degree relatives, and a significant excess of compression neuropathies (P = .03) was observed in third-degree relatives.

Conclusion: The current study shows strong evidence of familial clustering of rotator cuff tearing with other tendinopathies and with compression neuropathy. Observed increased risks in spouses and first-degree relatives supports shared environmental risk factors for rotator cuff tearing, most tendinopathies, and compression neuropathies. Increased risks to third-degree relatives for compression neuropathy suggest an association of these phenotypes that may have a shared genetic etiology.