Hereditary Paraganglioma as a Cause of Secondary Hypertension: A Case Study
Abstract:
Introduction: Paragangliomas are rare neuroendocrine tumors originating from extra-adrenal paraganglia that secrete catecholamines. Clinically, patients present with headaches, sweating, tachycardia, and can be a cause of secondary hypertension. While most cases are sporadic, approximately one-third are associated with hereditary syndromes, involving mutations in genes encoding the succinate dehydrogenase (SDH) enzyme.
Case Description: A 29-year-old male, former smoker (10 pack-years), with obesity and childhood-onset hyperten sion, without relevant family history, presented to a primary care setting with a severe headache, dizziness, vomiting, diaphoresis, and an average blood pressure (BP) of 180/100 mmHg, despite being on lisinopril 20 mg + amlodipine 5 mg once daily. On physical examination, he had a BMI of 31, central obesity, tachycardia, and a BP of 160/95 mmHg. Further testing revealed significantly elevated levels of renin, normetanephrine, and norepinephrine. Imag ing studies identified two solid masses, one anterior to the abdominal aorta and one sacral, suggestive of paragan glioma, with a confirmed SDH mutation on genetic testing. The patient underwent laparotomy for paraganglioma excision and has since maintained a BP of 120/80 mmHg without the need for antihypertensive medication.
Conclusion: This case reinforces the fundamental role of family physicians in recognizing atypical clinical presen tations and initiating timely, targeted investigations. Their central position in coordinating care allows for early re ferral, diagnostic accuracy, and multidisciplinary management—particularly in rare but treatable conditions. In this case, a prolonged diagnostic delay contributed to avoidable morbidity and impacted both the patient's quality of life and family well-being, highlighting the need for increased clinical awareness of secondary causes of hypertension in young adults.
