Endocrine Abstracts

Background: Von-Hippel-Lindau disease (VHL) is a rare (1/36.000 newborns), autosomal, dominant inherited tumour syndrome. A germline mutation in VHL tumour suppressor gene predisposes carriers to tumours in multiple organs. In the presence of positive family history, it can be diagnosed clinically in a patient with at least one typical VHL tumour.

Clinical report: In December 2007, a 34 years-old women presented with palpitations and tachycardia, but normal blood pressure. She had a previous history of surgeries, performed in another hospital: left adrenalectomy due to pheochromocytoma, spinal and cerebellar hemangioblastomas. Her mother and three aunts had VHL disease. Biochemical study revealed: urinary metanephrines 120.75 μg/24 h (25–312), vanillymandelic acid 11.44 mg/24 h (<15), ACTH 15 pg/ml (8am) (normal: 9–52) and 9.6 pg/ml (11pm), plasmatic cortisol 24 μg/dl (8am) (normal: 5–25) and 9.7 μg/dl (11pm). I¹²³-Metaiodobenzylguanidine scanning: ‘…right adrenal pheochromocytoma’. Normal ophthalmologic evaluation. Preoperative medical management was performed with a daily dose of phenoxybenzamine 20 mg, amlodipine 10 mg and propanolol 10 mg. A right adrenalectomy was performed. Histology confirmed the diagnosis. Six months after surgery, an abdominal CT revealed a ‘…solid pancreatic mass with 4.5×3.5 cm…’ Laboratorial study: plasmatic insulin 10 μUI/ml (<30), C-peptide 2.4 ng/ml (1.0–7.6) and chromogranin A 60 ng/ml (19–98). A distal pancreatectomy was performed without complications (pathology: ‘…Well differentiated, intrapancreatic, endocrine tumour.’). Two months later, a somatostatin receptor imaging with octreotide didn’t show fixation. At this moment, the patient maintains normal blood pressure, under treatment with hydrocortisone (20+5+5 mg) and fludrocortisone (0.05mg), daily. In the last evaluation (September 2008), she had normal plasmatic ionogram, ACTH<5 pg/ml, plasmatic cortisol 40 μg/dl and urinary free cortisol 108 μg/24 h (10–80).

Conclusions: The authors present this case due to its rarity and point out the need of follow-up during the entire patients’ life due to the possible development of other tumours. Finally, the importance of family vigilance and genetic study, which allows a precocious diagnosis and treatment.