Dataset Information

The Risk of Cholesteatoma in Individuals With First-degree Relatives Surgically Treated for the Disease.

ABSTRACT:

Importance

Cholesteatoma in the middle ear is not regarded as a hereditary disease, but case reports of familial clustering exist in the literature, as well as observed familial cases in the clinical work. However, the knowledge regarding cholesteatoma as a hereditary disease is lacking in the literature.

Objective

To assess the risk of cholesteatoma in individuals with a first-degree relative surgically treated for the same disease.

Design, setting, and participants

In this nested case-control study in the Swedish population between 1987 and 2018 of first-time cholesteatoma surgery identified from the Swedish National Patient Register, 2 controls per case were randomly selected from the population register through incidence density sampling, and all first-degree relatives for cases and controls were identified. Data were received in April 2022, and analyses were conducted between April and September 2022.

Exposure

Cholesteatoma surgery in a first-degree relative.

Main outcomes and measures

The main outcome was first-time cholesteatoma surgery. The association between having a first-degree relative with cholesteatoma and the risk of cholesteatoma surgery in the index persons was estimated by odds ratios (ORs) and 95% CIs through conditional logistic regression analysis.

Results

Between 1987 and 2018, 10 618 individuals with a first-time cholesteatoma surgery (mean [SD] age at surgery, 35.6 [21.5] years; 6302 [59.4%] men) were identified in the Swedish National Patient Register. The risk of having a cholesteatoma surgery was almost 4 times higher in individuals having a first-degree relative surgically treated for the disease (OR, 3.9; 95% CI, 3.1-4.8), but few cases were exposed overall. Among the 10 105 cases with at least 1 control included in the main analysis, 227 (2.2%) had at least 1 first-degree relative treated for cholesteatoma, while the corresponding numbers for controls were 118 of 19 553 control patients (0.6%). The association was stronger for individuals under the age of 20 years at first surgery (OR, 5.2; 95% CI, 3.6-7.6) and for a surgery involving the atticus and/or mastoid region (OR, 4.8; 95% CI, 3.4-6.2). There was no difference in the prevalence of having a partner with cholesteatoma between cases and controls (10 cases [0.3%] and 16 controls [0.3%]; OR, 0.92; 95% CI, 0.41-2.05), which implies that increased awareness does not explain the association.

Conclusions and relevance

In this Swedish case-control study using nationwide register data with high coverage and completeness, the findings suggest that the risk of cholesteatoma in the middle ear is strongly associated with a family history of the condition. Family history was nevertheless quite rare and can therefore only explain a limited number of all cases; these families could be an important source for information regarding the genetic background for cholesteatoma disease.

SUBMITTER: Bonnard A

PROVIDER: S-EPMC10020932 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

The Risk of Cholesteatoma in Individuals With First-degree Relatives Surgically Treated for the Disease.

Bonnard Åsa Å Engmér Berglin Cecilia C Wincent Josephine J Eriksson Per Olof PO Westman Eva E Feychting Maria M Mogensen Hanna H

JAMA otolaryngology-- head & neck surgery 20230501 5

<h4>Importance</h4>Cholesteatoma in the middle ear is not regarded as a hereditary disease, but case reports of familial clustering exist in the literature, as well as observed familial cases in the clinical work. However, the knowledge regarding cholesteatoma as a hereditary disease is lacking in the literature.<h4>Objective</h4>To assess the risk of cholesteatoma in individuals with a first-degree relative surgically treated for the same disease.<h4>Design, setting, and participants</h4>In thi ...[more]

PMID: 36929420

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Dataset Information

The Risk of Cholesteatoma in Individuals With First-degree Relatives Surgically Treated for the Disease.

Importance

Objective

Design, setting, and participants

Exposure

Main outcomes and measures

Results

Conclusions and relevance

Publications

The Risk of Cholesteatoma in Individuals With First-degree Relatives Surgically Treated for the Disease.

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