Background. Hereditary paraganglioma-pheochromocytoma syndrome is characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines and are located in the lower mediastinum, abdomen, and pelvis. Germline pathogenic variants in SDHB are generally associated with higher morbidity and mortality than pathogenic variants in the other SDHx genes. They are strongly associated with extra-adrenal sympathetic paragangliomas with a high risk of malignancy. The diagnosis of hereditary paraganglioma-pheochromocytoma syndrome is based on physical examination, family history, imaging studies, biochemical testing, and molecular genetic testing. Treatment includes antagonism of catecholamine excess with pharmacologic adrenergic receptor blockade followed by surgery.
Clinical case. We present the patient with hereditary paraganglioma pheochromocytoma syndrome diagnosed 8 years after surgical paraganglioma removal. At that time typical pheochromocytoma symptomes developed and imaging studies showed adrenal pheochromocytoma with metastases in paraaortic lymphnodes and right femur. Patient was treated with radiotherapy, chemotherapy, surgery, and prosthesis of right femur with unique endoprosthesis was performed after metastases removal. SDHB mutation was detected in patient, patient’s father and younger brother and they are currently enrolled in lifelong surveillance.
Conclusions. Patients with paraganglioma-pheochromocytoma should be tested for gene abnormalities as soon as possible. Patients with paraganglioma-pheochromocytoma should be evaluated and treated by multidisciplinary teams at centers with appropriate expertise to ensure a favorable outcome. Early diagnosis, treatment ant lifelong surveillance could prevent disease progression and complicated treatment.
