Abstract: Hereditary Carotid Body Tumor (HCBT) is a rare neuroendocrine tumor mainly caused by germline mutations of the SDHx gene. Its multifocality, familial aggregation and potential malignant risk pose unique challenges to diagnosis and treatment. This review systematically expounds the molecular mechanism of HCBT, pointing out that SDHx mutations drive tumorigenesis through the "pseudo-hypoxia" pathway and are regulated by epigenetic and somatic mutations. In terms of diagnosis, we emphasize the crucial role of 68Ga-DOTATATE PET/CT and SDHB immunohistochemistry, and advocate for multi-gene Panel sequencing for patients with high-risk characteristics (such as early-onset, multifocal, family history or malignant signs) to clarify the genetic background. Based on the existing evidence, we recommend conducting baseline biochemical tests for all newly diagnosed patients and initiating mandatory genetic screening for high-risk individuals such as those who are young, have multiple pregnancies, or have a family history. In terms of treatment, surgery is the main treatment method for HCBT, but individualized strategies still need to be formulated based on tumor classification, the patient's overall condition and genetic background. Comprehensive management measures such as targeted therapy, radionuclide therapy and standardized family management are crucial for improving the prognosis of patients.