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Evaluation for Kienböck Disease Familial Clustering: A Population-Based Cohort Study

Published:November 22, 2019DOI:https://doi.org/10.1016/j.jhsa.2019.10.005

      Purpose

      Kienböck disease (KD) is rare and its etiology remains unknown. As a result, the ideal treatment is also in question. Our primary purpose was to test the hypothesis that KD would demonstrate familial clustering in a large statewide population with comprehensive genealogical records, possibly suggesting a genetic etiologic contribution. Our secondary purpose was to evaluate for associations between KD and known risk factors for avascular necrosis.

      Methods

      Patients diagnosed with KD were identified by searching medical records from a comprehensive statewide database, the Utah Population Database. This database contains pedigrees dating back to the early 1800s, which are linked to 31 million medical records for 11 million patients from 1996 to the present. Affected individuals were then mapped to pedigrees to identify high-risk families with an increased incidence of KD relative to control pedigrees. The magnitude of familial risk of KD in related individuals was calculated using Cox regression models. Association of risk factors related to KD was analyzed using conditional logistic regression.

      Results

      We identified 394 affected individuals linked to 194 unrelated high-risk pedigrees with increased incidence of KD. The relative risk of developing KD was significantly elevated in first-degree relatives. There was a significant correlation between alcohol, glucocorticoid, and tobacco use and a history of diabetes, and the diagnosis of KD.

      Conclusions

      Familial clustering of KD observed in the Utah Population Database cohort indicates a potential genetic contribution to the etiology of the disease. Identification of causal gene variants in these high-risk families may provide insight into the genes and pathways that contribute to the onset and progression of KD.

      Clinical relevance

      This study suggests that there is a potential genetic contribution to the etiology of KD and that the disease has a significant association with several risk factors.

      Key words

      JHS Podcast

      January 1, 2020

      JHS Podcast Episode 46

      Dr. Graham interviews Drs. Nik Kazmers and Mick Jurynec regarding their paper, "Evaluation for Kienböck Disease Familial Clustering: A Population-Based Cohort Study",the lead article in the January 2020 issue of the Journal of Hand Surgery.

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