Endocrine Abstracts

Introduction: Adrenal pheochromocytomas are rare neuroendocrine tumours and their prevalence is likely underestimated – in some series 50% of cases were diagnosed during autopsy. The clinical presentation varies among patients which may make the diagnosis difficult to establish. We present the case of a woman with certain clinical characteristics of pheochromocytomas and who was diagnosed after having suffered a stroke. Specific points suggesting a pheochromocytoma and critical to the clinical practice are discussed.

Case report: A 49-year-old woman with hypertension and a suspected pheochromocytoma was referred to the Endocrinology Department in Wrocław. The patient underwent two surgeries for paragangliomas of the right and left carotid artery. During the second surgery, the patient suffered a stroke. After administrating anticoagulants, a bleeding from the gastrointestinal tract occurred. During the diagnostic process CT of the abdomen revealed a tumor in the right adrenal gland. Significantly elevated catecholamines and their metabolites in blood and urine confirmed the pheochromocytoma diagnosis; the patient was also diagnosed with diabetes. On account of the patient’s past paraganglioma incidents and her family history (sister), we also began genetic screenings for hereditary pheochromocytoma. A mutation in the SDHD gene was revealed in the patient’s DNA and subsequently in the blood samples taken from her sister and daughter.

Conclusions: Occurrence of paragangliomas with hypertension suggests the need for the pheochromocytoma–paraganglioma syndrome screening, especially in the case of paragangliomas in a patient’s family history. Early treatment is crucial to avoid life-threatening cardiovascular complications.