Rare phaeo-type in an odd phenotype
1-Dr Rahila Bhatti, Speciality Registrar Diabetes & Endocrinology, Kent & Sussex Hospital
2-Dr Masud Haq, Consultant Endocrinologist , Kent & Sussex Hospital
3-Dr Dennis Barnes, Clinical Lead for Diabetes & Endocrinology, Kent & Sussex Hospital
A 42 year old Swedish lady was admitted as an emergency under the surgeons with abdominal pain and vomiting. On examination, there were signs of peritonitis; pulse was 109/min and BP 141/69 mmHg. She required a right hemicolectomy for caecal diverticular disease. Immediately postoperatively she became tachycardic, hypertensive, and was found to have a pelvic collection and pneumonia. A CT abdominal scan showed a 6 cm left adrenal mass and she was referred to the Endocrine team
On further questioning, she complained of paroxysmal sweating attacks most days with tiredness. She had radiotherapy 14-17 years earlier for an AV malformation in the left occipital lobe complicated by secondary epilepsy. A maternal aunt had a brain tumour. Her medications included carbamazepine and levothyroxine.
Urinary adrenaline excretion was 0.36 and 0.40 umol (NR <0.07), noradrenaline levels 0.22 and 0.23 umol (NR <0.47), and urinary dopamine 0.96 and 1.07 umol (NR < 2.83) in two consecutive 24 hour collections. MIBG scan showed marked focal accumulation of tracer activity in the region of the left adrenal gland with no evidence of metastatic disease.
As this was predominantly an adrenaline-secreting tumour, she was beta-blocked with propranolol, later alpha-blocked with doxazosin, followed by laparoscopic adrenalectomy.
She was screened for Von Hippel-Lindau syndrome but genetic analysis for VHL gene was negative. No mutation in PTEN gene was detected. Despite greater awareness of the genetic basis of phaeochromocytomata, phenotypic variation still exists. Predominantly adrenaline-secreting phaeochromocytoma is rare and initial beta-blockade is appropriate prior to surgery.