Von Hippel Lindau Disease May Compromise Outcomes in Pregnancy from VEGF Mediated Accelerated Growth of Intra-Cranial Hemangioblastomas

Background: Von Hippel-Lindau disease is an autosomal dominant disorder characterized by development of variety of benign and malignant tumors and cysts including brain stem, cerebellum, spinal cord as well as pancreas, kidneys, and retina. The most common tumors associated with the disorder are hemangioblastomas. Symptomatic CNS hemangioblastomas may be the first presentation of Von Hippel-Lindau disease. Initial presentation during pregnancy is uncommon and presents unique challenges with regard to early diagnosis and management. Case presentation: We report a case of a young woman with cerebellar hemangioblastoma, complicated by obstructive hydrocephalus, who first presented with signs and symptoms of increased intracranial pressure during pregnancy and was eventually diagnosed with Von Hippel-Lindau disease. We propose accelerated growth of Von Hippel-Lindau disease related hemangioblastomas during pregnancy and explore the pathophysiology of this disorder. Specific diagnostic challenges imposed by pregnancy and approach to management of these complex patients are also reviewed. Conclusions: : Increased levels of VEGF during pregnancy may promote growth of hemangioblastomas. Accelerated growth as well as rare but life-threatening complications such as tumor hemorrhage are most likely to happen during the 3 rd trimester of pregnancy. Unfortunately, non-specific symptoms like nausea and vomiting, which are common obstetric complaints, can be confounding and pose challenges to early diagnosis. Careful neurological examination is critical in pregnant patients with new onset neurological symptoms. When a hemangioblastoma is suspected, pregnant patients should be screened for Von Hippel-Lindau disease to identify other potentially life-threatening tumors, and when near term, elective delivery should be considered to avoid both maternal and fetal complications. In complicated cases such as obstructive hydrocephalus, CSF diversion may be indicated and will result in rapid symptom improvement and prevention of severe neurologic sequelae. Unlike sporadic hemangioblastomas, surveillance may be the preferred approach in Von Hippel-Lindau in the absence of symptoms, as these patients have multiple tumors and a high risk of recurrence, making repeat surgeries of unclear benefit.