07Apr 2023
Knowledge is Key: Empowering Patients with Genetic Counseling and Testing for Carotid Body Paragangliomas

Knowledge is Key: Empowering Patients with Genetic Counseling and Testing for Carotid Body Paragangliomas

The study aimed to estimate the prevalence of succinate dehydrogenase (SDH) deficiency in patients with carotid body paragangliomas, which are often caused by germline pathogenic variants in SDH genes. The researchers identified 64 carotid body paragangliomas from 62 patients and found that 67% were SDH-deficient. The study suggests that genetic testing and counseling should be offered to all patients with carotid body paragangliomas, regardless of age or family history, as SDH deficiency is a common occurrence in such cases.

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