Fig. 2: Screening and follow-up proposed during adulthood.
From: International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers
An initial tumour screening should be performed after the discovery of an SDHA, SDHB, SDHC and SDHD-pi mutation relying on blood pressure measurements, a symptoms or signs questionnaire, assessment of metanephrines in plasma or urine, and imaging work-up by MRI of head and neck, abdomen, pelvis, and a whole-body PET–CT. Even after an initial negative work-up, all asymptomatic mutation carriers should be followed clinically and by biochemistry assessments every year and by MRI every 2–3 years. Thoracic MRI is not mandatory at the first initial work-up if PET–CT does not show any abnormality but is recommended for subsequent follow-up.
