Endocrine Abstracts

Phaeochromocytomas are rare neuroendocrine tumours with an incidence of 2–8/million persons per year. They occur as a sporadic entity or form part of a complex autosomal dominant familial genetic syndrome, mainly MEN2A, MEN2B, Neurofibromatosis Type1, Von Hippel-Lindau disease (VHL) and mutations in succinyl dehydrogenase. The mean age at diagnosis is in the third decade in the familial cases and the risk of recurrence has been described as high as 23%.

VHL is a hereditary syndrome caused by germ line mutation of the von Hippel-Lindau tumour suppressor gene and classically associated with retinal and CNS hemangioblastomas, clear cell renal carcinomas and phaeochromocytomas. The disease is heterogeneous in view of the varied gene mutants. The VHL Type2c presents with phaeochromocytomas as the only clinical manifestation as the gene mutation protein products can suppress renal carcinoma and the release of abnormal growth factors which contributes to abnormal blood vessels and hence angioblastomas.

We describe the case of a young patient in his late 1940s who presented with a recurrent phaeochromocytoma 14 years post left adrenalectomy. Further investigations revealed a recurrent catecholamine secreting lesion in the left adrenal bed. He had surgery. High urine and plasma metanephrines were detected during surveillance on follow up. He was found to have phaeochromocytoma in his right adrenal gland. Fluorescent sequence analysis has detected the missense mutation c.404G>C (p.Arg64Pro) in exon 1 of the VHL gene. This pathogenic mutation has been found to be particularly associated with the VHL Type 2C disease.

This case highlights the importance of genetic screening and regular follow up in patients presenting with phaeochromocytoma.