Von Hippel Lindau disease (VHL), also called Familial cerebello retinal angiomatosis, is an uncommon genetic disease with multisystem involvement. It’s characterized by visceral cysts and benign tumors with possible for following malignant transformation. It’s a Kind of phakomatosis that results in a mutation from the von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.
VHL disease can be subdivided according to the clinical manifestations, although these groups often correlate with certain types of mutations present in the VHL gene.
Signs and symptoms of Von Hippel Lindau Disease
Symptoms and signs associated with VHL disease include headaches, issues with walking and balance, dizziness, weakness of the limbs, eyesight difficulties, and higher blood pressure. Conditions associated with VHL disease include angiomatosis, hemangioblastomas, pheochromocytoma, renal cell carcinoma, pancreatic cysts (pancreatic serous cystadenoma), endolymphatic sac tumor, and bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women). Angiomatosis happens in 37.2 percent of individuals presenting with VHL disease and generally happens in the retina. Because of this, loss of eyesight is extremely common. But, other organs may be influenced: strokes, heart attacks, and cardiovascular disease are typical added symptoms. Approximately 40 percent of VHL disease gifts with CNS hemangioblastomas and they’re found in approximately 60-80%. Spinal hemangioblastomas are observed in 13-59 percent of VHL disease and therefore are specific since 80 percent are observed in VHL disease. Though every one of these tumours are common in VHL disease, approximately half of all cases present with just 1 tumour type.
Treatment of Von Hippel Lindau Disease
There’s not any way to reverse VHL mutations, but early recognition and therapy of particular indicators of VHL can considerably decrease complications and enhance quality of life. Because of this, people with VHL disease are usually screened routinely for retinal angiomas, CNS hemangioblastomas, clear-cell renal carcinomas and pheochromocytomas.CNS hemangioblastomas are often surgically removed if they’re symptomatic. Photocoagulation and cryotherapy are typically employed for treating symptomatic retinal angiomas, even though anti-angiogenic therapies might also be an alternative. Renal tumours might be taken out with a semi permeable nephrectomy or alternative techniques like radiofrequency ablation.
