We present a case of a 24 year old woman with Von Hippel Lindau disease (VHL) who has had a previous left adrenalectomy for a 12mm phaeochromocytoma and pancreatectomy for multiple neuroendocrine tumours. Other manifestations include small cerebellar haemangioblastomas, retinal haemangioblastoma and renal cysts. A recent CT has revealed an 8 mm right adrenal lesion with imaging characteristics consistent with metachronous phaeochromocytoma. She is normotensive with normal plasma metanephrines.
Bilateral phaeochromocytoma is not uncommon in patients with VHL and has been reported in 16-60% of patients in retrospective studies, with many patients (30-47%) also developing contralateral primary tumours. The risk of malignant phaeochromocytoma in VHL is comparatively low, (~5%) when compared with sporadic (~10%) and other hereditary causes (38% in SDHB mutation).
Improvements in biochemical testing and high resolution imaging, has led to identification of phaeochromocytomas at smaller sizes. The clinical significance of smaller phaeochromocytomas is less certain however, with only small retrospective studies available for guidance on when to intervene.
The morbidity of bilateral adrenalectomy is well described with both under and over replacement of steroids proving problematic. To preserve endogenous cortisol production, some centres preferentially perform cortical sparing adrenalectomy; however this approach may be limited by local surgical expertise. Thought must also be given to the risk of recurrence, which may necessitate further procedures with increased complexity.
VHL is a variegated disease that requires close screening for tumour development and recurrence. Mortality is usually determined by cerebellar lesions or renal cell carcinoma. The management of bilateral adrenal phaeochromocytomas is complicated by an absence of randomised controlled data and relies on retrospective reporting. Given the known risks of bilateral adrenalectomy and low likelihood of malignancy or clinically significant manifestations of small phaeochromocytoma, close observation or adrenal sparing surgery, seems a judicious alternative.