PT  - JOURNAL ARTICLE
AU  - Gavasker A Sivaskandarajah
AU  - Terra G Arnason
TI  - Unsuspected Von Hippel-Lindau syndrome in acute-onset resistant hypertension
AID  - 10.1136/bcr-2018-225162
DP  - 2018 Jul 24
TA  - BMJ Case Reports
PG  - bcr-2018-225162
VI  - 2018
4099  - http://casereports.bmj.com/content/2018/bcr-2018-225162.short
4100  - http://casereports.bmj.com/content/2018/bcr-2018-225162.full
AB  - The discovery of adrenal lesions during routine testing for hypertension requires focused consideration for adrenal overproduction of cortisol, aldosterone or metanephrines. An otherwise healthy 25-year-old woman presented with headaches, diaphoresis and hot flushes with grossly elevated urine catecholamines, normetanephrines and norepinephrine levels, yet normal metanephrines, epinephrine/epinephrine, cortisol and aldosterone levels. Subsequent functional uptake studies and scans identified bilateral adrenal adenomas consistent with phaeochromocytomas. There was no family history of phaeochromocytomas or familial syndromes; however, a targeted genetic analysis for causes of familial phaeochromocytomas identified a heterozygous germline mutation in the VHL gene consistent with Von Hippel-Lindau syndrome. In this case, the identification of the VHL mutation led to careful screening and detection of clinically occult central nervous system hemangioblastomas and pancreatic neuroendocrine tumours. Verified genetic mutations facilitated best practices for long-term surveillance protocols, preconception counselling and screening of blood relatives. The patient responded well to surgical treatment and has ongoing multidisciplinary long-term surveillance.