Do SDHD gene mutations cause multiple paraganglioma tumors?
SDHD (succinate dehydrogenase subunit D) is one of the genes that can run in families and raise the risk of paragangliomas and pheochromocytomas, which are rare tumors that start in nerve tissue 67. The short answer is yes: people who carry a harmful SDHD variant are at risk of developing more than one tumor over their lifetime, and this is one of the defining features of SDHD-related disease 57. That said, carrying the variant does not mean tumors are guaranteed, and the chance of developing them grows with age 5.
What the research says
A 2024 systematic review and meta-analysis of SDHD variant carriers found that the chance of developing a tumor (called penetrance) climbs steadily with age: about 20% by age 20, 58% by age 40, and 82% by age 60 5. That same review specifically looked at multifocality, meaning more than one tumor in the same person, and reported it as a key outcome among carriers who developed tumors 5. This fits with older clinical descriptions of familial paraganglioma syndrome type 1, which is caused by SDHD mutations and is marked by multiple tumors, usually in the head and neck, with an average age at presentation around 30 7.
What to ask your doctor
- If I carry an SDHD variant, what is my estimated risk of developing a paraganglioma or pheochromocytoma over my lifetime?
- How often should I have screening, and what tests are used to look for tumors in the head, neck, abdomen, and adrenal glands?
- Because SDHD carriers can develop more than one tumor, how will my care team check for new tumors over time?
- Should my family members consider genetic testing for SDHD?
- Are there any signs or symptoms I should watch for between screening visits, such as high blood pressure, palpitations, or a neck mass?
This question is drawn from common patient questions about Genetics & Precision Medicine and answered using cited medical research. We do not provide individualized advice.