Objectives: The aim was to study the presentation, disease characteristics, operative outcome, and prognosis in patients with familial Pheochromocytoma associated with von Hippel-Lindau (VHL) disease.Materials and Methods: There were six patients belonging to two generations of a single family who developed features of VHL over a period of 13 years and were treated at our institute. Patients′ characteristics, that is, age, gender, presenting complaints and clinical signs, laboratory and biochemical evaluation, and the presence of associated conditions was gathered from medical records. The preoperative and postoperative radiological imaging and histopathological results were also collected.Results: Out of six cases, five were male, and one was female. The mean age at first presentation was 25 years (16-40). All patients presented with uncontrolled hypertension and were found to have Pheochromocytoma on workup. Three patients had unilateral adrenal tumor, and three had bilateral disease. None of the patients had extra-adrenal Pheochromocytoma. All patients were managed with adrenalectomy and had benign pathology. Two patients subsequently had craniotomy for excision of cerebellar hemangioma, and one patient had bilateral partial nephrectomy at the time of adrenalectomy. There was no peri- post-operative mortality and all patients are being followed by the surgeon(s) and endocrinologist.Conclusion: Pheochromocytoma can be a part of familial conditions including VHL. Other associated features should be suspected, investigated, and treated in these patients that can influence patients′ clinical course and prognosis. Family members should also be screened to achieve early diagnosis.
- von Hippel-Lindau disease