Endocrine Abstracts

Case history: Von Hippel–Lindau disease (VHL) was confirmed in this 36 year old gentleman when he was 13. His father’s diagnosis of metastatic renal cell carcinoma (RCC) and paragangliomas prompted genetic testing and revealed mutation c.499C>T p. (Arg167Trp) which is associated with type 2B VHL in this patient and his sister. Shortly after diagnosis, bilateral phaeochromocytomas were resected with a bilateral adrenalectomy. At age 17, the patient developed tinnitus, deafness to high-pitches and unsteadiness when imaging confirmed an endolymphatic sac tumour on the left which was surgically removed. At age 27, surveillance imaging revealed a C1 spinal haemangioblastoma which was surgically resected. At age 35, he and his partner underwent pre-implantation genetic testing prior to undergoing successful in-vitro fertilisation and subsequent delivery.

Investigations: Routine surveillance: Central Nerves System: Magnetic resonance imaging (MRI) of the brain and spine confirms the absence of a right side endolymphatic sac and no residual disease of the left, a small cerebellar haemangioblastoma, which will be monitored, and expected abnormal architecture at the site of his resected haemangioblastoma at C1. Ophthalmic: Unremarkable. Abdomen (non-renal): A remnant of adrenal tissue remains but the size is stable. Two small lesions, consistent with islet cell tumours, were seen in the pancreas, one in the head, which remains stable in size, and one in the ucinate process which is no longer visible. Abdomen (renal): Simple cysts are seen in the kidneys but require no intervention, eGFR >90 ml/min. Biochemistry: Normal urinary metanephrines.

Conclusion and points for discussion: This case describes the clinical course of type 2 VHL and illustrates the requisite routine imaging and biochemical surveillance. Of importance is the monitoring of renal cysts due to the high risk of RCC. Points for discussion include the contemporary genetic nomenclature and relation to the clinical presentations, emerging treatment for haemangioblastomas; surgery vs radiotherapy, and fertility considerations with pre-implantation genetic testing and IVF considerations for patients of reproductive age.