Learning objectives
To review the most common abdominal manifestations/lesions of von-Hippel-Lindau (VHL) disease;
To recognize the imaging specificities of the lesions when they occur in patients suffering from this disease;
To increase awareness for the need to conduct screening programs in these patients because the lesions are treatable.
Background
Grouped as a hereditary phakomatosis,
von Hipple-Lindau (VHL) disease is a rare inherited,
autosomal dominant syndrome with high penetrance (80-100%) but variable expression that manifests as a multisystem disorder.
The prevalence of the VHL gene abnormality (inactivation of a tumor suppression gene located in chromosome 3p25.5) stands between 1 in 31,000 and 1 in 53,000 individuals.
Sex distributions are equal.
The mean age at initial presentation is 26 years and the median life expectancy is 49 years.
Genetic abnormalities are believed to induce the development...
Findings and procedure details
Although genetic testing is available,
imaging plays a key role in the identification of the most common abdominal manifestations of VHL disease and their subsequent follow-up,
in the screening of asymptomatic gene carriers,
and in their long-term surveillance.
The various lesions can be demonstrated with different imaging techniques such as ultrasonography (US),
computed tomography (CT) and magnetic resonance imaging (MRI).
Pancreatic cysts are commonly detected with US or CT (the latter improving the detection of small lesions).
The walls of simple cysts enhance poorly or...
Conclusion
Radiology plays a central role in the management of VHL disease.
Imaging detection of the various abdominal lesions requires implementation of screening protocols for high-risk gene carriers.
Screening protocols for detection of the most common abdominal lesions commonly include the following:
Annual physical examination and urine test;
Annual abdominal US examination,
beginning at 11 years old;
Abdominal CT scanning every 2/3 years,
beginning at 20 years old (more often if multiple renal cysts are present);
Annual 24-hour urine collection for vanillylmandelic acid levels,
beginning at...
Personal information
Francisco Rego Costa
Email:
[email protected]
Radiology Department,
Hospital de São João - Porto,
Portugal
Oporto Medical University
Head of Department: Professora Doutora Isabel Ramos
References
Graziani R,
Mautone S,
Vigo M,
Manfredi R,
Opocher G,
Falconi M (2014) Spectrum of magnetic resonance imaging findings in pancreatic and other abdominal manifestations of Von Hippel-Lindau disease in a series of 23 patients: a pictorial review.
JOP.
Jan 10;15(1):1-18 (PubMed 24413778)
Davenport MS,
Caoili EM,
Cohan RH,
Hoff CN,
Ellis JH (2010) Pancreatic manifestations of von Hippel-Lindau disease-effect of imaging on clinical management.J Comput Assist Tomogr.
Jul;34(4):517-22 (PubMed 20657218)
Leung RS,
Biswas SV,
Duncan M,
Rankin S (2008) Imaging Features of von Hippel-Lindau...
