Von Hippel-Lindau syndrome (VHL) is an autosomal dominant multisystem disorder characterized by hemangioblastomas of the central nervous system (CNS), clear cell renal cell carcinoma (kidney cancer), pheochromocytomas (a type of non-cancerous tumor), islet cell tumors of the pancreas, endolymphatic sac tumors, cysts (renal, pancreatic, and epididymal), and a predisposition to bilateral and multicentric retinal angiomas. The disease has a prevalence rate of 1 in 36000 birth.
Retinal angiomas may be the initial manifestation of VHL syndrome and can cause vision loss, while CNS hemangioblastoma (Lindau tumor) is the most commonly recognized finding of VHL syndrome that occurs in 40% of patients. Renal cell carcinoma occurs also in about 40% of the patients and it is the main cause of mortality. Endolymphatic sac tumors occur in 10% of the cases and can cause hearing loss. The incidence of VHL syndrome is thought to be about one in 36,000 live births. Both genders are equally affected, and about 20% of the cases are familial.
The classification of VHL syndrome phenotypes depends on the risk of developing pheochromocytoma or renal cell carcinoma. VHL type 1 has a low risk for pheochromocytoma, whereas VHL type 2 has a high risk for pheochromocytoma. VHL type 2 is further subdivided into: type 2A (with low risk of renal cell carcinoma), type 2B (with high risk of renal carcinoma), and type 2C (has risk for pheochromocytoma only). A new VHL phenotype is identified to have a low risk for both renal cell carcinoma and pheochromocytoma.
Von Hippel-Lindau syndrome is associated with mutations in Von Hippel-Lindau tumor suppressor (VHL) gene. Cyclin D1 gene (CCND1) variants are also known to contribute to the phenotype by acting as a modifier.
Grexa and Elizabeth, 1998, described the abdominal manifestations in 13 members of a Kuwaiti family affected with Von Hippel-Lindau disease. [Grexa, Elizabeth. Abdominal manifestation of von Hippel-Lindom disease in a Kuwaiti family. Kuwait Med. J. 1998; 30 (3): 246-249.
Athyal et al, 2007, reported the first case that represented an occurrence of urinary bladder paraganglioma in von Hippel-Lindau patients. The case represented a 33 year old woman diagnosed with von Hippel-Lindau disease at Al-Amiri Hospital in Kuwait. The subject suffered from hematuria and was found to have urinary bladder paraganglioma which was revealed through CT and MRI scans. Athyal et al. suggested considering the diagnosis of vesical paraganglioma in subjects with von Hippel-Lindau disease demonstrating macroscopic hematuria.
Boujaoude et al, 2007, described a 64-year-old man presenting with abdominal pain, fever and jaundice. He was diagnosed with "type 1 VHL disease with obstructive jaundice caused by pancreatic pseudotumorous fibrotic lesion compressing the common bile duct".