Cardiovascular complications induced by pheochromocytoma associated with neurofibromatosis type 1 (von Recklinghausen's disease) – case report and review of literature

Abstract

Neurofibromatosis type 1 (also known as von Recklinghausen’s disease) is a genetic disorder characterized by neurofibromas, skin pigmentation, eye and bone abnormalities. It is associated with pheochromocytoma in 1 to 5% of cases which determines symptoms related to catecholamine excessive secretion. We present the case of a 54-year-old man that was admitted to the cardiology clinic due to acute onset of tachyarrhythmia (atrial flutter) and high blood pressure. Neurofibromatosis type 1 was diagnosed by clinical examination while laboratory exams, 24-hour continuous blood pressure monitoring and imaging exams raised the probability of pheochromocytoma. After proper pharmacological stabilization, the patient underwent surgery and the 110/110 mm left adrenal mass was removed via abdominal laparotomy. The patient evolution was favorable and regular follow-up is scheduled. In conclusion, even though asymptomatic screening for pheochromocytoma is not recommended, this pathology should be suspected in all patients with neurofibromatosis especially if they present acute onset of cardiovascular signs.