Pheochromocytoma in a Patient With von Hippel-Lindau Disease

Pheochromocytoma and paraganglioma (PPGL) are associated with a genetic predisposition in at least 40% of patients. Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome that manifests by the retinal, brain, and spine hemangioblastomas; renal cell carcinomas; pheochromocytomas; endolymphatic sac tumors of the middle ear; pancreatic serous cystadenomas; and neuroendocrine tumors of the pancreas. Patients with VHL develop PPGL in up to 18% of cases.

Case Report

The patient was a 20-year-old woman who presented for evaluation of multifocal PPGL. She reported that at 6 years of age, she initially presented with a hypertension-induced seizure secondary to the renal artery stenosis. At 10 years of age, she again presented with hypertension, and at that time was diagnosed with a right adrenal pheochromocytoma that was treated with laparoscopic adrenalectomy. She was symptom free until several months before referral to our institution, when she developed hypertension associated with lightheadedness, diaphoresis, blurry vision, and headaches. Because of her history of pheochromocytoma, a 24-hour urine collection was analyzed for fractionated catecholamines and metanephrines and confirmed noradrenergic-type catecholamine excess ( Table 41.1 ). Computed tomography (CT) of abdomen was performed and demonstrated three arterially enhancing retroperitoneal masses: a 2.7-cm left adrenal mass, a 2.6-cm left paraadrenal mass anterior to the left renal pelvis, and a 2.3-cm right retroperitoneal mass posterior to the inferior vena cava and adjacent to the right renal artery ( Fig. 41.1 ). Her blood pressure was 133/81 mmHg, heart rate 93 beats per minute, and body mass index 34.1 kg/m ² . Family history was positive for a pheochromocytoma in the patient’s mother and maternal grandfather.

TABLE 41.1

Laboratory Tests

Biochemical Test	Result	Reference Range
Plasma metanephrine, nmol/L	<0.2	<0.5
Plasma normetanephrine, nmol/L	7.9	<0.9
24-Hour urine:
Epinephrine, mcg	1.1	<21
Norepinephrine, mcg	313	15–80
Dopamine, mcg	191	65–400
Metanephrine, mcg	48	<400
Normetanephrine, mcg	4340	<900