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Von hipple-Lindau Disease ( VHL ) - Case based discussion USMLE
📌 𝐅𝐨𝐥𝐥𝐨𝐰 𝐨𝐧 𝐈𝐧𝐬𝐭𝐚𝐠𝐫𝐚𝐦:- https://www.instagram.com/drgbhanuprakash
📌𝗝𝗼𝗶𝗻 𝗢𝘂𝗿 𝗧𝗲𝗹𝗲𝗴𝗿𝗮𝗺 𝗖𝗵𝗮𝗻𝗻𝗲𝗹 𝗛𝗲𝗿𝗲:- https://t.me/bhanuprakashdr
📌𝗦𝘂𝗯𝘀𝗰𝗿𝗶𝗯𝗲 𝗧𝗼 𝗠𝘆 𝗠𝗮𝗶𝗹𝗶𝗻𝗴 𝗟𝗶𝘀𝘁:- https://linktr.ee/DrGBhanuprakash
Von Hippel-Lindau disease (VHL) is a rare genetic disease of abnormal growth of blood vessels (angiomatosis). Capillaries join together to form benign tumors and cysts in different parts of the body. These have the potential for malignant transformation. VHL is characterized by the formation of hemangioblastomas of the central nervous system (CNS) and retina as well as renal cysts, renal cell carcinoma, pheochromocytoma, pancreatic neoplasms, and inner ear tumors. Clinical presentations are variable depending on the size and location of the growths. Symptoms commonly present in adolescence or early adulthood although they can manifest at any age. VHL has autosomal dominant inheritance, and is caused by mutations in the VHL gene.
Associated morbidity and mortality are determined by the extent of organ system involvement. Patients require long-term surveillance for malignancy and other complications. Management is multidisciplinary and may involve ophthalmology, neurology, endocrinology, nephrology, nutritional, and surgical consultation.
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