New research shows strong heredity for middle ear cholesteatoma
A nationwide Swedish study including over 10,000 cases of cholesteatoma, a lesion in the middle ear, shows a strong hereditary component to the disease.
Cholesteatoma is a benign growing retraction pocket in the middle ear originating from the tympanic membrane. During growth, the surrounding tissue such as ossicles, surrounding bone and nerves are affected, with the risk of damaging the bone towards the inner ear or brain with hearing loss and risk of intracranial infections as a result. Every year, 600-700 individuals are treated with surgical removal of the disease in Sweden. However, residual problems with hearing loss and taste disturbances after surgery can accure.
The current study is a case-control study including over 10,000 individuals who underwent primary surgery for cholesteatoma over a 30-year period. The results show an almost fourfold higher risk of cholesteatoma in individuals with a first-degree relative surgically treated for the disease. It is a small percentage of the total number of individuals who have any heredity, but the group can be an important source of further knowledge about the disease. The research group, SwedEar, is now continuing with more studies on clinical and genetic aspects of hereditary cholesteatoma.
The study is the first of its kind to investigate cholesteatoma heredity using Swedish registers. The research has been conducted in collaboration between Karolinska Institutet (Department of Clinical Science, Intervention and Technology and Institute of Environmental Medicine), Karolinska University Hospital and Umeå University.
"We know little about the reasons why cholesteatoma occurs and therefore this study contributes with an important piece of the puzzle also leading us to further hypotheses and questions. The importance of heredity is also something that our patients ask about, and although we still lack many answers this study has moved us forward."
The study is published in JAMA Otolaryngology – Head and Neck Surgery and has been the Editor's Choice on the journal's website.
The Risk of Cholesteatoma in Individuals With First-degree Relatives Surgically Treated for the Disease
JAMA Otolaryngology – head and neck surgery, March 16, 2023
Åsa Bonnard; Cecilia Engmér Berglin; Josephine Wincent; Per Olof Eriksson; Eva Westman; Maria Feychting; Hanna Mogensen
Åsa BonnardDepartment of Clinical Science, Intervention and Technology (CLINTEC)
Research group leader SweChole