Background SDHx variant carriers have an increased risk of developing head and neck paraganglioma. The Dutch guidelines state that these patients require lifelong follow-up, but no clear recommendation is made about the frequency of screening.

Objective To determine the annual risk of developing head and neck paraganglioma in SDHx variant carriers after a negative initial screening.

Methods We conducted a retrospective single-center cohort study in the Netherlands that included 49 SDHA, SDHB, and SDHD variant carriers with a negative first screening and at least one follow-up. The main outcome measure was the annual risk of developing a paraganglioma for the SDHx variants separately.

Results Between 2000 and 2022, nine patients developed a paraganglioma all of whom were carriers of a SDHD variant (n = 23). Neither the 24 SDHB-related cases nor the 2 SDHA variant carriers developed a paraganglioma after a median of 4.83 and 5.92 years of follow-up, respectively.

Conclusion The 5-year risk for head and neck paragangliomas in pathological SDHx variant carriers is less than 20%. A 5-year interval for screening SDHx carriers seems sufficient to prevent the unnoticed development of head and neck paragangliomas that warrant treatment.

背景 SDHx 变异携带者患头颈部副神经节瘤的风险增加。荷兰指南指出，这些患者需要终身随访，但没有对筛查频率提出明确建议。

目的 确定初次筛查阴性后 SDHx 变异携带者患头颈部副神经节瘤的年度风险。

方法 我们在荷兰进行了一项回顾性单中心队列研究，其中包括 49 名 SDHA、SDHB 和 SDHD 变异携带者，首次筛查结果为阴性，且至少有一次随访。主要结果指标是 SDHx 变异每年发生副神经节瘤的风险。

结果 2000 年至 2022 年间，有 9 名患者患上了副神经节瘤，他们都是 SDHD 变异的携带者 ( n  = 23)。中位随访时间分别为 4.83 年和 5.92 年后，24 名 SDHB 相关病例和 2 名 SDHA 变异携带者均未发展为副神经节瘤。

结论 病理性 SDHx 变异携带者 5 年发生头颈部副神经节瘤的风险低于 20%。每隔 5 年筛查 SDHx 携带者似乎足以预防需要治疗的头颈部副神经节瘤的未被注意到的发展。