Endocrine Abstracts

Introduction: Von Hippel–Lindau (VHL) disease is a rare disorder, characterized by the development of a variety of benign and malignant tumors. It is autosomal dominantly inherited disease that causes retinal or central nervous system hemangioblastomas, endolymphatic sac tumors, renal cell carcinomas, pancreatic cysts and tumors, pheochromocytoma and epididymal cystadenomas. The condition is associated with inactivation of a tumor suppression gene.

Case: The 31-year-old Caucasian male patient was consulted in the Hospital of Lithuanian University of Health Sciences, Kaunas clinics ophthalmology department because of the gradually decreasing vision with a right eye. Proliferative retinopathy and retinal hemangioma were diagnosed. VHL syndrome was suspected and abdominal computed tomography (CT) was performed. CT revealed masses in both adrenal glands and MIBG scintigraphy confirmed bilateral pheochromocytoma (PCC). Another diagnostic VHL sign - cysts in pancreas and kidney were also seen in CT. The patient had no clinical symptoms of PCC at that time. To confirm pheochromocytoma, the catecholamine blood test was done and five times elevated normetanephrine 5.65 pmol/l (0–1.037) and chromogranin A 177 μg/l (0–100) were detected. To exclude MEN 2 syndrome genetic test was done and no RET mutations were found. Diagnose of VHL was made based on clinical findings. The multidisciplinary team decided to remove left adrenal gland because the size of the left adrenal tumor was four times larger and in SPECT/CT it had more intensive radionuclide uptake. Histopathological examination revealed pheochromocytoma in 2.4×4×4.3 cm and 3.5×4×2.3 cm size masses with necrotic areas and on immunohistochemistry positive expression of chromogranin A. Catecholamine and chromogranin A levels decreased in one-year follow-up after the operation. Patient lost vision with a right eye because the hemangioblastoma of the retinae was inoperable and complicated in retinal detachment. His family history was unremarkable. Patient was scheduled for follow-up to monitor possible VHL complications.

Conclusion: VHL syndrome is a complex and rare disease, therefore, the diagnosis can be challenging. VHL requires systemic multidisciplinary management to achieve adequate control of these locally aggressive tumors to prevent avoidable morbidity and mortality.