Von Hippel-Lindau (vHL) Disease

Masses in the Spine and Abdomen • Xray of the Week

This 42 year old female with a history of prior craniotomy has abnormalities in the spine and abdomen. What is the diagnosis?

Figure 1. A and B: Cervical Spine MRI shows cystic lesions (red arrow) with an enhancing mural nodule (yellow arrow) in the upper cervical spine. Figure 1. C and D: Thoracic Spine MRI shows an intermediate intensity intramedullary nodule in the mid thoracic on T2 weighted images (blue arrow), with enhancement on T1 weighted fat saturation images (green arrow).

Figure 2. A: Contrast-enhanced CT scan axial image shows a right renal cyst (red arrow) and innumerable small pancreatic cysts (yellow arrows).

Figure 2. B: T2 weighted axial image with fat sat MRI shows a right renal cyst and innumerable small pancreatic cysts. There is a defect in the left kidney due to prior Renal Cell Carcinoma resection (green arrow).

Discussion

Von Hippel–Lindau disease is inherited in an autosomal dominant pattern and is caused by mutations of the von Hippel–Lindau tumor suppressor (vHL) gene on the short arm of chromosome 3 (3p25-26). The condition is rare with a prevalence of 1:39,000–53,000.

Manifestations of vHL disease include:

• Cerebellar hemangioblastoma 44-72% • Spinal hemangioblastoma 13-59% • Retinal hemangioblastoma 45-59% • Pheochromocytoma 0-60% • Renal cell carcinoma (usually clear cell type) 24-45% • Renal cysts 59-63% • Pancreatic cysts 50-91% • Pancreatic serous cystadenoma 12% • Pancreatic neuroendocrine tumor 5-17% • Papillary cystadenoma of the epididymis 10-60%

To make the diagnosis of vHL: • Positive family history of vHL disease: one hemangioblastoma, pheochromocytoma or renal cell carcinoma. • No family history of vHL disease: at least two of the above tumors.

Spinal hemangioblastomas are present in 13-59% of vHL patients and 80% of people with spinal hemangioblastomas have vHL disease. When associated with vHL disease, they occur at a younger age and have a worse prognosis.

On imaging studies, hemangioblastomas may be solid, cystic, hemorrhagic, or mixed. The classic appearance is a cystic lesion with a solid enhancing mural nodule. Spinal cord lesions may be associated with a syrinx.

Pancreatic cysts are extremely rare in the general population; therefore, the presence of a single cyst in an individual undergoing vHL disease screening because of a family history makes it highly likely that the person has vHL disease.

CNS hemangioblastomas are usually surgically removed if they are symptomatic. Radiosurgery has also been shown to be effective in some cases. Renal tumors may be treated with partial nephrectomy or radiofrequency ablation.

References:

1. Nordstrom-O'Brien M, van der Luijt RB, van Rooijen E, et al. (May 2010). "Genetic analysis of von Hippel-Lindau disease". Hum. Mutat. 31 (5): 521–37. doi:10.1002/humu.21219.

2. Leung RS, Biswas SV, Duncan M et-al. Imaging features of von Hippel-Lindau disease. Radiographics. 28 (1): 65-79. http://dx.doi.org/10.1148/rg.281075052

3. Hough DM, Stephens DH, Johnson CD et-al. Pancreatic lesions in von Hippel-Lindau disease: prevalence, clinical significance, and CT findings. AJR Am J Roentgenol. 1994;162. https://www.ajronline.org/doi/pdf/10.2214/ajr.162.5.8165988

4. Bachir Taouli, Mehdi Ghouadni, et al. Spectrum of Abdominal Imaging Findings in von Hippel-Lindau Disease. AJR:181, October 2003 149-1054. https://www.ajronline.org/doi/pdf/10.2214/ajr.162.5.8165988

Kevin Rice, MD has been the Medical Director of the Radiology Department as well as Chief of Staff of Valley Presbyterian Hospital in Los Angeles, California and is a radiologist with Renaissance Imaging Medical Associates. Dr. Rice has made several media appearances as part of his ongoing commitment to public education. Dr. Rice's passion for state of the art radiology and teaching includes acting as a guest lecturer at UCLA. In 2015 Dr. Rice co-founded Global Radiology CME with Natalie Rice to provide innovative radiology education at exciting international destinations, with the world's foremost authorities in their field. In 2016, Dr. Rice was nominated and became a semifinalist for a "Minnie" award for the Most Effective Radiology Educator.

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