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
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Article info
Publication history
Published online: November 22, 2019
Accepted:
October 16,
2019
Received:
April 27,
2019
Footnotes
N.H.K. and M.J.J. contributed equally to the manuscript.
No benefits in any form have been received or will be received related directly or indirectly to the subject of this article.
Identification
Copyright
© 2020 by the American Society for Surgery of the Hand. All rights reserved.
