A cholesteatoma is a benign squamous change in the middle ear arising from the tympanic membrane. During development, surrounding tissues such as auditory bones and nerves are affected, with the risk of bone shattering towards the inner ear or brain with hearing loss and risk of intracranial infections as a result. 600-700 individuals are treated annually through surgical removal of the disease in Sweden. However, many have residual problems with hearing loss and taste disturbances after surgery.
The current study is a case and control study with more than 10,000 individuals undergoing primary surgery over a period of 30 years. The results show a four-fold increased risk of cholesteatoma in individuals who have first-degree relatives with the disease. It’s a small percentage of the total number of individuals with any heredity, but the group can be an important source for more knowledge about the disease. The research group is now following up with further studies on the clinical and genetic aspects in individuals with hereditary cholesteatoma.
This study is the first of its kind to investigate the heritability of cholesteatoma using Swedish registries. The research was carried out in collaboration between Karolinska Institutet (Institute for Environmental Medicine and Department of Clinical Science, Intervention and Technology), Karolinska University Hospital and Umeå University.
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