Von Hippel-Lindau Syndrome(Archived)

Excerpt

Von Hippel-Lindau (VHL) syndrome is a hereditary autosomal dominant disease affecting several organ systems. The growth of cysts or tumors characterizes the disease. Tumors can either be benign or malignant. The most characteristic type of tumor in VHL is hemangioblastoma, a benign tumor made of newly formed blood vessels. Hemangioblastomas develop in the central nervous system (CNS) and retina and can cause complications, including ataxia and vision loss. Cysts are a common manifestation of VHL in the kidneys, pancreas, and genital tract. Renal cell carcinoma (RCC) and pancreatic neuroendocrine tumors are also seen with VHL. Endolymphatic sac tumors found in the inner ear can be seen in patients with VHL. Close to 50% of patients with VHL have hemangiomas, which can occur in any part of the retina. These hemangiomas may leak serum, forming microglial bands that can cause retinal detachment and vitreous hemorrhage. The result is the development of glaucoma or permanent vision loss.

VHL can be classified as follows:

1. Type 1 (without pheochromocytoma)

2. Type 2 (with pheochromocytoma).

   1. Type 2 is further classified as:

      1. Type 2A: Pheochromocytoma is present along with CNS hemangioblastomas but no RCC.

      2. Type 2B: Pheochromocytoma CNS hemangioblastomas and RCC are present.

      3. Type 2C: Pheochromocytoma is present without hemangioblastomas or RCC.