BEYOND THE YELLOW

UNMASKING PHEOCHROMOCYTOMA IN A JAUNDICED PATIENT

Abstract

INTRODUCTION/BACKGROUND
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours (NET) arising from chromaffin cells. Bilateral pheochromocytomas are extremely rare, constituting 7–10% of all pheochromocytoma cases, and 60%–90% of them possess a germline mutation.

CASE
A 17-year-old male presented initially with epigastric pain and obstructive jaundice. He is not hypertensive. ERCP revealed choledocholithiasis and a dilated common bile duct (CBD). A contrast-enhanced CT of the liver showed an enhancing CBD lesion causing biliary obstruction and incidental bilateral adrenal tumours. A CT Adrenal protocol confirmed a left adrenal lesion measuring 5.4 × 4.8 × 5.1 cm with unenhanced attenuation 35.4 Hounsfield Units (HU) and a right adrenal lesion measuring 1.2 × 1.1 × 1.6 cm with unenhanced attenuation 30.7 HU, both with delayed contrast washout, consistent with pheochromocytomas. Biochemical evaluation showed elevated 24-hour urinary normetanephrine at 18,558 nmol/24h (497–2489), which is seven times the upper limit of normal, confirming catecholamine excess with normal levels of metanephrine. Other hormonal investigations were unremarkable.

He underwent open cholecystectomy and choledochectomy with biliary reconstruction. Histopathology confirmed a well-differentiated Grade I neuroendocrine tumour (NET) of the CBD, positive for synaptophysin, chromogranin A, and CD56, with a Ki-67 <3%. Surgical margins and lymph nodes were negative. Thyroid ultrasound was normal. ⁶⁸Ga-DOTATATE Positron Emission Tomography (PET) confirmed bilateral pheochromocytomas with no extra-adrenal paraganglioma or metastatic disease. He underwent bilateral adrenalectomy after adequate alpha-blockade and was discharged well with hydrocortisone and fludrocortisone replacement. He is awaiting genetic testing.

CONCLUSION
This case highlights a rare pheochromocytoma with obstructive jaundice, lacking the classical triad of headache, palpitations, and sweating. Bilateral pheochromocytomas are commonly seen in Multiple Endocrine Neoplasia types 2A and 2B, von Hippel–Lindau disease, and rarely with MAX and TMEM127 mutations, though they can also occur sporadically. Genetic testing is crucial for diagnosing and managing bilateral pheochromocytoma, as it aids in treatment decisions, recurrence prediction, and family screening.