Hereditary phaeochromocytoma syndromes

These are a group of inherited genetic conditions that increase the risk of developing phaeochromocytomas (tumours of the adrenal gland) and paragangliomas (similar tumours arising outside the adrenal gland), both of which can produce excess stress hormones such as adrenaline. Several different genetic syndromes fall into this category, including multiple endocrine neoplasia type 2, von Hippel-Lindau syndrome, and specific hereditary paraganglioma syndromes. Recognising a hereditary cause matters because it changes screening recommendations for both the individual and their family.

They are caused by inherited mutations in various specific genes, including RET, VHL, and several SDH genes, each associated with a somewhat different pattern of tumour risk and associated features. Most are inherited in an autosomal dominant pattern, meaning each child of an affected parent has a 50% chance of inheriting the relevant mutation. Genetic testing can identify the specific syndrome involved when one of these tumours is diagnosed, particularly in younger patients or those with a family history.

Symptoms relate to excess hormone production and can include episodes of high blood pressure, palpitations, headache, sweating, and anxiety-like symptoms, sometimes occurring in distinct episodes. Some tumours, particularly certain paragangliomas, do not produce excess hormones and instead cause symptoms related to their location, or are found incidentally on imaging. Symptoms and their pattern can vary depending on which specific genetic syndrome is involved.

Yes, both the tumours themselves and the excess hormones they can produce carry risks, including severe blood pressure spikes and, for some tumour types and syndromes, a risk of malignancy (spread beyond the original tumour site). With appropriate diagnosis, treatment, and specific genetic-syndrome-tailored screening, risks can be substantially managed. Different genetic syndromes carry different specific risk profiles, which is why identifying the exact syndrome involved matters for guiding appropriate long-term monitoring.

Yes, by definition these are inherited genetic syndromes, most following an autosomal dominant pattern, meaning each child of an affected parent has a 50% chance of inheriting the condition. Genetic testing is recommended for anyone diagnosed with a phaeochromocytoma or paraganglioma, particularly at a younger age, with multiple tumours, or with a family history, since a significant proportion of these tumours turn out to have an underlying hereditary cause. Identifying an inherited syndrome allows appropriate screening to be offered to at-risk relatives.

Management includes surgical removal of tumours, careful blood pressure control before surgery given the risk of a hormone surge during the procedure, and specific ongoing surveillance imaging tailored to the particular genetic syndrome involved, since different syndromes carry different patterns of tumour recurrence or new tumour development over time. A specialist multidisciplinary team, including endocrinology, genetics, and surgery, coordinates this comprehensive, syndrome-specific care. Family members found to carry the relevant genetic mutation are also typically offered their own tailored screening programme.

Individual tumours can often be successfully treated, usually with surgery, but the underlying genetic predisposition to develop further tumours over time generally remains, meaning lifelong surveillance is usually recommended rather than a one-off cure. The specific long-term outlook and recommended surveillance intensity depend on which genetic syndrome is involved. Ongoing specialist follow-up, tailored to the specific syndrome, is central to long-term management.

Each syndrome, such as multiple endocrine neoplasia type 2, von Hippel-Lindau syndrome, or the various hereditary paraganglioma syndromes, carries its own specific pattern of tumour types, locations, and additional associated features beyond phaeochromocytoma or paraganglioma alone. This means the specific genetic diagnosis significantly shapes the recommended screening programme and monitoring for other syndrome-specific features. Genetic testing to identify the precise syndrome involved is an important step once a hereditary cause is suspected or confirmed.

See a specialist if you have been diagnosed with a phaeochromocytoma or paraganglioma, particularly at a young age, with multiple tumours, or with a relevant family history, so genetic testing can be considered. A private endocrinology or genetics referral for assessment can typically be arranged within about one to two weeks. If a hereditary syndrome is confirmed, ensuring both you and at-risk family members are enrolled in appropriate ongoing screening is an important next step.